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Gene: Bbx MGI:1917758

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Gene Summary

Name:
bobby sox HMG box containing
Synonyms:
5530401J07Rik,  5730403O13Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Bbxtm1a(EUCOMM)Wtsi HOM Early adult 8.60×10-16
abnormal cranium morphology Bbxtm1a(EUCOMM)Wtsi HOM Early adult 4.34×10-06
increased thermal nociceptive threshold Bbxtm1a(EUCOMM)Wtsi HOM Early adult 1.22×10-10
decreased lean body mass Bbxtm1a(EUCOMM)Wtsi HOM Early adult 1.10×10-08
decreased bone mineral content Bbxtm1a(EUCOMM)Wtsi HOM Early adult 3.61×10-07
decreased bone mineral density Bbxtm1a(EUCOMM)Wtsi HOM Early adult 3.68×10-06
decreased body weight Bbxtm1a(EUCOMM)Wtsi HOM   Early adult 6.27×10-07
abnormal tooth morphology Bbxtm1a(EUCOMM)Wtsi HOM Early adult 2.37×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Bbxtm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Bbxtm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Bbxtm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Bbxtm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Bbxtm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI

View all 82 images

Bbxtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Bbxtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Bbxtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Bbx mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bbx by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 33
Delayed eruption of teeth, Increased circulating IgA level, Conical tooth, Decreased circulating ... OMIM:300636
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Neutropenia, Chronic Familial
Clubbing, Gingivitis, Clubbing of fingers, Periodontitis, Increased circulating antibody level, P... OMIM:162700
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... ORPHA:53697
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Immunodeficiency 64 With Lymphoproliferation
Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Clubbing of ... OMIM:618534
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... OMIM:308230
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe... OMIM:618363
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Increased circulating IgE lev... ORPHA:1858
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Increased circulating IgG level, Clinodactyly, Failure to thrive... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Coni... OMIM:300291
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Decreased circulating IgG level, Conical tooth, Abnormal immunoglobulin level, Increa... ORPHA:98813
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... ORPHA:3409
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Oral ulcer, Increased circulati... ORPHA:169154
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Short tibia, Short... OMIM:118651
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Trichothiodystrophy 3, Photosensitive
Natal tooth, Increased circulating IgA level, Carious teeth, Eclabion, Failure to thrive OMIM:616395
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Chronic sin... OMIM:613502
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Acromicric Dysplasia
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... OMIM:102370
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... OMIM:222600
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Lethal Recessive Chondrodysplasia
Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses ORPHA:1423
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... ORPHA:93346
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Increased circulating IgE level, Increased sus... OMIM:619752
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, F... OMIM:184260
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulatin... OMIM:300400
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Increased circul... OMIM:147060
Agammaglobulinemia 8B, Autosomal Recessive
Everted upper lip vermilion, Failure to thrive, Agammaglobulinemia, Decreased circulating total I... OMIM:619824
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Mu-Heavy Chain Disease
Increased circulating antibody level, Osteoporosis, Osteolysis, Weight loss ORPHA:100024
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... OMIM:617765
Simple Cryoglobulinemia
Pericarditis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, P... ORPHA:91139
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Generalized bone demineralization, Cor pulmonale, Decreased circulatin... OMIM:215250
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Limitation of joint mobility, Recurrent aphthous stomatitis, Increased circulating IgA... ORPHA:343
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Decreased circulating antibody level, Weight loss, I... ORPHA:29073
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron... OMIM:614078
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Increased circulating specific IgE antibody, Increas... ORPHA:74
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Decreased circulating total IgM, Decreased circulating IgG level, Decrease... OMIM:300861
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... OMIM:190351
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Ventricular septal defect, Aplasia/Hypoplasia... OMIM:113000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener... ORPHA:53
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Chronic sin... OMIM:612692
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Aphthous ulcer, Increased circulating IgE level, Clubbing of fin... OMIM:615767
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... OMIM:177170
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Dental crowding, Craniosynostosis, Increased circulating IgE level, Clubbing, Hip dislocation, Ma... OMIM:618523
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del... OMIM:620099
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pal... OMIM:620269
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Decreased circulating antibody level, Atrial septal defect, Failure to thr... OMIM:617744
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca... OMIM:269300
Hypochondroplasia
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Malar flattening, Limited ... OMIM:146000
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Failure to thrive, Increased circulating IgA level, Joint stiffness OMIM:615934
Pgm3-Cdg
Osteomyelitis, Increased circulating IgA level, Increased circulating IgE level, Increased circul... ORPHA:443811
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Micrognathia, Abnormality of the dentition, Increased circulating IgE level, High ... OMIM:618282
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Failure to thrive, Increased circulating IgA level OMIM:617388
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... ORPHA:93296
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... ORPHA:88630
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Decreased circulating antibody level, Decreased circulating total IgM, High palate,... OMIM:614069
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Oral mucosal blisters ORPHA:555905
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Epilepsy-Telangiectasia Syndrome
Abnormality of the dentition, Decreased circulating antibody level, Short 5th finger, Long philtr... ORPHA:1951
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ... OMIM:613312
Pycnodysostosis
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persiste... OMIM:265800
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing OMIM:126550
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... OMIM:608728
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Cardiomegaly, Flexion contracture, Increased c... OMIM:256040
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Decreased specific antibody response to polysaccharide vac... OMIM:241600
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent sinusitis, Decreased circulating IgG level, Partial absence o... OMIM:240500
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl... OMIM:609616
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... OMIM:259710
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating total IgM, Recurrent sinusitis, Decre... OMIM:619281
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:277440
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Thrombocytopenia 1
Increased circulating IgE level, Joint hemorrhage, Increased circulating IgA level OMIM:313900
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Failure to thrive in infancy, Increased circulating IgA level OMIM:617099
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased circulating total IgM, Decreased circulating IgG level, ... OMIM:611926
Adult-Onset Nemaline Myopathy
Micrognathia, Dilated cardiomyopathy, Flexion contracture, Paraproteinemia, High palate ORPHA:171442
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational... OMIM:616229
Immunodeficiency, Common Variable, 1
Impaired T cell function, Decreased circulating total IgM, Recurrent sinusitis, Decreased circula... OMIM:607594
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Primary Biliary Cholangitis
Increased circulating IgM level, Osteoporosis, Increased circulating IgA level ORPHA:186
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Delayed eruption of teeth, Short metacarpal, Ivory epiphyses of the distal phalanges ... OMIM:190350
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Alg12-Cdg
Thin upper lip vermilion, Sandal gap, Proximal placement of thumb, Micrognathia, Abnormal circula... ORPHA:79324
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Desbuquois Dysplasia 2
Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Joint la... OMIM:615777
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Dental crowding, Joint stiffness, Pierre-Robin sequence, Cleft palate, Shor... OMIM:619184
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental enamel morphology, Cox... ORPHA:582
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Xq28 (MECP2) duplication
Malar flattening, Failure to thrive, Decreased circulating IgA level, Narrow mouth DECIPHER:45
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, Decreased circulating total IgM, Decreased circulat... OMIM:619510
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Cardiomegaly, Wide distal femoral metaphysis, D... OMIM:613320
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Osteoar... ORPHA:2298
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Protruding tongue, Micrognathia, Macroglossia, Increased circulating IgM level, Malar ... OMIM:242860
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Hyper-Igd Syndrome
Arthritis, Increased circulating IgD level, Oral ulcer, Increased circulating IgA level OMIM:260920
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flexion contracture, Flared metaphysis, P... OMIM:215150
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Short humerus, Thin upper lip vermilion, Short femur, Sandal gap... OMIM:607143
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Abno... ORPHA:1798
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Large for gestational age, Short proximal phalanx of finger, Decreased ... OMIM:616638
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Thick upper lip vermilion, Short metacarpal, Single interphalangeal crease of fifth finger, Hypop... OMIM:611717
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... OMIM:617241
Fibrochondrogenesis 2
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Ma... OMIM:614524
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Failure to thrive, Calvarial hyperostosis, Carious teeth OMIM:612714
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Bicuspid aortic valve, Short long bone, Hypoplastic left heart, Double outlet r... OMIM:618845
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iib
Recurrent fractures, Decreased circulating antibody level, High palate, Overlapping fingers, Retr... OMIM:606056
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... ORPHA:93324
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... OMIM:156400
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Metaphyseal widening, Flexion contracture, Retrognathia, Abnormal heart morphology,... OMIM:263210
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U... ORPHA:94068
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... ORPHA:93316
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... OMIM:250420
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micrognathia, Metaphyseal widening, Limitation of joi... OMIM:224400
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... ORPHA:2314
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Increased circulating IgM level ORPHA:37748
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F... OMIM:259700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Clubbing of fingers, Increased circulating IgE level OMIM:618982
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased lymphocyte proliferation in response to anti-CD3, Thin lower lip vermilion,... ORPHA:221139
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Recurrent aphthous stomatitis, Decreased circulating IgG level, Juvenile rheum... ORPHA:275
Postinfectious Vasculitis
Increased circulating IgA level, Weight loss, Cardiomyopathy, Arthritis, Abnormality of humoral i... ORPHA:48435
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Thin upper lip vermilion, Broad hallux, Micrognathia, Protruding... OMIM:617062
Activated Pi3K-Delta Syndrome
Decreased circulating antibody level, Arthritis, Increased circulating IgM level, Failure to thri... ORPHA:397596
Monosomy 18Q
Mandibular prognathia, Absence of the pulmonary valve, Arachnodactyly, Tapered finger, Secundum a... ORPHA:1600
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Abnormal metatarsal morphology, Narrow philtrum, Thick lower lip vermilion, Lim... ORPHA:163654
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... ORPHA:2256
Mucopolysaccharidosis, Type Ivb
Joint laxity, Mandibular prognathia, Pointed proximal second through fifth metacarpals, Coxa valg... OMIM:253010
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Geleophysic Dysplasia 1
Osteopenia, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Joint stiffness, Hypoplasia ... OMIM:231050
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pericardial effusion, Osteoarthritis, Osteolysis, Inc... ORPHA:77259
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immun... ORPHA:277
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating antibody level, Arthritis, Decreased circulating total IgM, Decreased circu... OMIM:616100
Xylt1-Cdg
Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Truncal obesity, Short long bone, Thic... ORPHA:370930
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Decreased circulating IgG lev... ORPHA:508533
Frank-Ter Haar Syndrome
Osteopenia, Micrognathia, Secundum atrial septal defect, High palate, Short palm, Atrial septal d... OMIM:249420
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Enlargement of pa... ORPHA:79078
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... ORPHA:50814
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Arthritis, Absent isohemagglutinin level, Decreased circula... OMIM:615559
Immunodeficiency 27A
Hypoplasia of the femoral head, Weight loss, Increased circulating IgG level, Increased circulati... OMIM:209950
Mogs-Cdg
Decreased circulating IgG level, Cardiomegaly, Retrognathia, Decreased circulating antibody level... ORPHA:79330
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia,... OMIM:212750
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Micrognathia, Glossoptosis, High palate, Squared iliac bones, Ulnar deviation of fing... OMIM:611209
Stuve-Wiedemann Syndrome 1
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue, Short tibia... OMIM:601559
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... ORPHA:93352
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Micrognathia, Dental malocclusion, Wide mouth, Slender lon... OMIM:612731
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Greenberg Dysplasia
Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variation in bone mi... OMIM:215140
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... OMIM:269250
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Decreased circulating total IgM, Osteopetros... OMIM:612301
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level ORPHA:482
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Coarse metaphyseal tra... OMIM:618961
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Micrognathia, Narrow palat... OMIM:617022
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Failure to thrive in infancy, Slender long bone, Short philtrum, Camptodactyly, Cl... OMIM:613385
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Delayed eruption of teet... ORPHA:2909
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Fibrochondrogenesis 1
Hypoplastic scapulae, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia, Narrow mou... OMIM:228520
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Joint hypermobility, Tapered finge... OMIM:616007
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 22
Pericarditis, Failure to thrive, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:615758
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ... ORPHA:96097
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Short lower limbs, Abnormality of the dentition, Avascular necrosis of the capi... ORPHA:93315
Immunodeficiency 92
Osteomyelitis, Abnormal B cell proliferation, Partial absence of specific antibody response to te... OMIM:619652
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... ORPHA:93357
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contracture, Hypopl... ORPHA:1865
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol... OMIM:614091
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... ORPHA:239
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... OMIM:131300
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Interstitial Lung Disease 2
Clubbing of fingers, Increased circulating antibody level OMIM:178500
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent sinusitis, Decreased ... OMIM:615577
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnormal iliac win... ORPHA:15
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Arthritis, Clubbing of fingers, Decreased circulating total IgM, Recurrent sin... OMIM:614700
Rhyns Syndrome
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly OMIM:602152
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Increased circulating antibody level OMIM:615285
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phal... OMIM:615630
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Decreased circulating antibody level, Decreased circulating total IgM, Reduced... ORPHA:331206
Chilblain Lupus
Finger swelling, Increased circulating antibody level ORPHA:90280
Rothmund-Thomson Syndrome Type 2
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S... ORPHA:221016
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Sinusitis, Increased circulating IgE level,... OMIM:102700
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Agammaglobulinemia, X-Linked
Cor pulmonale, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Re... OMIM:300755
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Thin upper lip vermilion, Pericarditis, Decreased circulating IgG level, Pericardial ... OMIM:212065
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Squared il... OMIM:616300
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Dyskeratosis Congenita, Digenic
Failure to thrive, Abnormality of the dentition, Decreased circulating total IgM, Decreased circu... OMIM:620040
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymp... ORPHA:276
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Pericardial effusion, Metaphyseal sclerosis, Weig... ORPHA:2905
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Wide mouth, Long philtrum, Open mouth, Decreased circulating IgA level ORPHA:457485
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic... OMIM:151210
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Craniosynostosis, Tapered finger, Micrognathia, Small hand, Decreased circulating total IgM, Hip ... OMIM:620005
Mucolipidosis Ii Alpha/Beta
Osteopenia, Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertro... OMIM:252500
Primary Intestinal Lymphangiectasia
Pericardial effusion, Decreased circulating antibody level, Weight loss, Decreased circulating to... ORPHA:90362
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level OMIM:616069
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... OMIM:613091
Myeloma, Multiple
Paraproteinemia OMIM:254500
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... OMIM:182250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Bloom Syndrome
Syndactyly, Small for gestational age, Agenesis of maxillary lateral incisor, Decreased circulati... OMIM:210900
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,... OMIM:308240
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Increased circulating IgG level, Limited elbow flexion, Limited... ORPHA:206594
Camurati-Engelmann Disease
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor... ORPHA:1328
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Flexion contracture, Osteoporosis, Failure to thrive, Decreased circulating IgA level OMIM:613327
Papa Syndrome
Arthritis, Limitation of joint mobility, Increased circulating antibody level ORPHA:69126
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... ORPHA:3003
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Increased circula... ORPHA:449400
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Leishmaniasis
Increased circulating antibody level, Abnormal oral cavity morphology, Abnormal oral mucosa morph... ORPHA:507
Atelosteogenesis Type I
Short femur, Micrognathia, Abnormal ossification involving the femoral head and neck, Abnormal fi... ORPHA:1190
Gaucher Disease Type 3
Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morphology, Peri... ORPHA:77261
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Micrognathia, Carious teeth, Velopharyngeal insufficiency,... OMIM:223370
Selective Igm Deficiency
Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... ORPHA:331235
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Flexion contracture, Clubbing, Macroglossia, Flared iliac wing, Increased c... OMIM:617303
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ... OMIM:139210
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... OMIM:606367
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:436159
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Complete atrioventricular ... OMIM:617925
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619802
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Increased circulating antibody level OMIM:114065
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Failure to thrive, Decreased ci... OMIM:275350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Limited elbow extension, Flare... OMIM:618019
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM... OMIM:243700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level OMIM:616005
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Cardiomegaly, Micrognathia, High, narrow palate, Abn... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Flexion contracture, Arthritis, Finger swelling, Increased circulating antibody level,... OMIM:617591
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... OMIM:615503
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, Recurrent sinusitis ORPHA:217390
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Riddle Syndrome
Weight loss, Arthritis, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulati... ORPHA:420741
Gaucher Disease
Osteopenia, Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morp... ORPHA:355
Bloom Syndrome
Decreased circulating IgG level, Small for gestational age, Micrognathia, Cheilitis, Decreased ci... ORPHA:125
Prolidase Deficiency
Increased circulating antibody level, Failure to thrive, High palate, Micrognathia OMIM:170100
Aspergillosis
Abnormal long bone morphology, Sinusitis, Osteomyelitis, Increased circulating IgE level ORPHA:1163
Immunodeficiency 47
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... OMIM:300972
Tularemia
Increased circulating antibody level, Oral ulcer ORPHA:3392
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... OMIM:618188
Immunodeficiency 23
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level... OMIM:615816
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abnormal calcif... OMIM:271665
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Arthritis, Rheumatoid arthritis, Decreased circulating IgG level... ORPHA:183675
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Failure to thrive OMIM:618495
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Cystic Echinococcosis
Weight loss, Bone cyst, Increased circulating antibody level, Abnormal heart morphology ORPHA:400
Cog1-Cdg
Osteopenia, Thin upper lip vermilion, Failure to thrive, Coxa valga, Micrognathia, Pierre-Robin s... ORPHA:263508
Al Amyloidosis
Abnormal cardiac ventricle morphology, Abnormal heart morphology, Weight loss, Macroglossia, Incr... ORPHA:85443
Lead Poisoning
Delayed eruption of teeth, Small for gestational age, Cranial hyperostosis, Increased circulating... ORPHA:330015
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Abnormality of the dentition ORPHA:90368
Alg9-Cdg
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Pericardial... ORPHA:79328
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... OMIM:306955
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Viss Syndrome
Micrognathia, High, narrow palate, Generalized joint laxity, Right ventricular dilatation, Increa... OMIM:619472
Pyoderma Gangrenosum
Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Sinusitis, Decreased circulating IgG2 level, ... OMIM:208900
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
Zika Virus Disease
Arthritis, Increased circulating IgM level ORPHA:448237
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Median cleft lip, Hamartoma of tong... OMIM:269860
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ... OMIM:619479
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Failure to thrive in infancy, Partial IgA deficiency, Lack of T cell function, Decreased circulat... ORPHA:35078
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Enlargement of parotid gland, ... ORPHA:449432
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Abnormal pericardium morphology, Bone cyst, Weight loss, Increas... ORPHA:284
Netherton Syndrome
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level OMIM:256500
Q Fever
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, ... ORPHA:781
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f... ORPHA:373
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Failure to thrive, Increased circulating IgE level OMIM:304790
Autoimmune Hepatitis
Arthritis, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Flexion contracture, Abnormal heart morphology, Macroglossia, Increased circulat... ORPHA:505248
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pericardial effusion, Bone cyst, Clubbing, Weight loss, Arthrit... OMIM:181000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Panhypogammaglobulinemia, Oral ulcer, Increased circulating IgE level OMIM:602450
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Oral ulcer, Weight loss, Decreased circulating total IgA, Arthritis,... OMIM:619381
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Hamartoma of tongue, Preaxial hand polydactyly, Post... OMIM:263520
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... OMIM:617088
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Weight loss ORPHA:2902
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Pneumocystosis
Increased circulating antibody level, Weight loss ORPHA:723
Lysinuric Protein Intolerance
Osteopenia, Osteoporosis, Abnormal heart morphology, Decreased circulating antibody level, Abnorm... ORPHA:470
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Coccidioidomycosis
Pericarditis, Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Increased circ... ORPHA:228123
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Multiple muscular ventricular septal defects, Pulmonic stenosis, Increased cir... OMIM:615508
Brucellosis
Pericarditis, Osteomyelitis, Small for gestational age, Myocarditis, Knee osteoarthritis, Endocar... ORPHA:1304
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Encephalitis Lethargica
Stiff neck, Increased circulating antibody level ORPHA:83600
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Paraproteinemia ORPHA:439232
Tick-Borne Encephalitis
Stiff neck, Increased circulating IgG level, Increased circulating IgM level, Tongue fasciculatio... ORPHA:297
Scleromyxedema
Paraproteinemia, Narrow mouth ORPHA:167635
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Japanese Encephalitis
Increased circulating IgM level, Stiff neck, Elbow flexion contracture, Increased circulating ant... ORPHA:79139
Congenital Analbuminemia
Small for gestational age, Obesity, Increased circulating antibody level ORPHA:86816
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Lassa Fever
Increased circulating IgM level ORPHA:99824
Cysticercosis
Abnormal myocardium morphology, Stiff neck, Increased circulating antibody level ORPHA:1560
Igg4-Related Kidney Disease
Pericarditis, Increased circulating IgG4 level, Increased circulating IgE level, Weight loss, Inc... ORPHA:449395
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Weight loss, Arthritis, Increased circulating antibody level, Hypertrophic ... OMIM:615846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Osteomyelitis, Failure to thrive in infancy, Cachexia, Increased circulating IgE level ORPHA:37042
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level, Gingival bleeding ORPHA:319251
Primary Sjögren Syndrome
Decreased circulating antibody level, Arthritis, Decreased circulating complement C3 concentratio... ORPHA:289390
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Polyclonal elevation of IgM, Weight loss ORPHA:171
Trichinellosis
Trismus, Increased circulating IgE level ORPHA:863
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Crimean-Congo Hemorrhagic Fever
Stiff neck, Pericardial effusion, Myocarditis, Increased circulating IgG level, Increased circula... ORPHA:99827
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Igg4-Related Ophthalmic Disease
Sinusitis, Increased circulating IgG4 level, Increased circulating IgE level, Abnormality of the ... ORPHA:449563
Marburg Hemorrhagic Fever
Arthritis, Pericarditis, Increased circulating antibody level ORPHA:99826
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level, Weight loss ORPHA:91500
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration ORPHA:99829

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bbx

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bbx.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bobby sox homolog regulates tooth root formation through modulation of dentin sialophosphoprotein. Journal of cellular physiology (June 2020) Bbxtm1c(EUCOMM)Wtsi Bbxtm1a(EUCOMM)Wtsi Bbxtm1d(EUCOMM)Wtsi 32537777
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Bbxtm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Bbxtm1a(EUCOMM)Wtsi PMC6459510
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength. PLoS genetics (August 2012) Bbxtm1a(EUCOMM)Wtsi PMC3410859

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Bbxtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Bbxtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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