Gene Summary

Name:
Rho-related BTB domain containing 3
Synonyms:
1700040C17Rik,  2610033K01Rik,  4930503C18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 total body fat amount Rhobtb3tm1a(KOMP)Wtsi HOM   Early adult 1.13×10-05
decreased bone mineral content Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 2.49×10-05
abnormal tooth morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 3.75×10-08
decreased body weight Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 1.08×10-10
decreased body length Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 5.83×10-15
abnormal snout morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 6.50×10-06
abnormal joint morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 4.47×10-06
abnormal cranium morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 4.34×10-06
decreased lean body mass Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 4.28×10-07

Download data as:  TSV  XLS

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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 0.0% (0 of 2)
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote Ambiguous
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 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote Ambiguous
Liver N/A heterozygote 50% (1 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 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 100% (2 of 2)
Skin N/A heterozygote 100% (2 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 Ambiguous
Stomach N/A heterozygote 100% (2 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 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 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.

Histopathology

Images

22 Images

Legacy Phenotype Associated Images

View all 186 images

View all 9 images

Human diseases caused by Rhobtb3 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 Rhobtb3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Bowing of the long bo... ORPHA:2501
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... ORPHA:83451
Pyle Disease
Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of primary teeth,... OMIM:265900
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy... OMIM:228930
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... OMIM:618363
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Léri-Weill Dyschondrosteosis
Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... ORPHA:3329
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu... OMIM:600002
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Failure to thrive, Normochromic microcytic ane... OMIM:610198
Fryns-Smeets-Thiry Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Micrognathia, Patellar aplasia, Arachnoda... ORPHA:2058
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ... OMIM:609981
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Eem Syndrome
Carious teeth, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Ectrodactyly, Ab... ORPHA:1897
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Rickets, Osteomalacia, Premature loss of primary teeth, Arthrop... OMIM:146300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Elbow dislocation, Failure to thrive, Long philtrum, Clinodactyly, Sle... OMIM:613805
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Failure to thrive, Syndactyly OMIM:226700
Microphthalmia, Syndromic 9
Severe short stature, Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe... OMIM:601186
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habi... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Broad long bones, Flared m... OMIM:269300
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Truncal obes... OMIM:618160
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Meier-Gorlin Syndrome 4
Genu recurvatum, Hypoplasia of the maxilla, Failure to thrive, Slender long bone, Thick lower lip... OMIM:613804
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp... OMIM:257850
Pycnodysostosis
Aplastic clavicle, Carious teeth, Persistent open anterior fontanelle, Persistence of primary tee... OMIM:265800
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo... ORPHA:1452
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhe... OMIM:235200
Mirage Syndrome
Microphallus, Lymphopenia, Leukopenia, Intrauterine growth retardation, Decreased testicular size... OMIM:617053
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Delayed cranial suture closure, Generalized lipodystrophy, Progressive clavicula... OMIM:608612
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Aplastic clavicle, Failur... OMIM:620099
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Cone-shaped epiphyses of the middle phalanges of the hand, Distal... OMIM:606895
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Failure to thrive,... OMIM:277440
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hypoplasia of the ra... OMIM:617604
Nail-Patella Syndrome
Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell... ORPHA:2614
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Micropenis, Asplenia, Short stature OMIM:602361
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... OMIM:224690
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Narrow mouth, Arachnod... OMIM:265000
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho... ORPHA:1798
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Portal hypertension... ORPHA:465508
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Anemia,... OMIM:613824
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Rothmund-Thomson Syndrome Type 2
Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, High pala... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Patellar hypoplasia, Toot... ORPHA:221008
Wolfram Syndrome 1
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblas... OMIM:222300
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Genu valgum, Hypoplasia of teeth, Genu varum, Coxa valga OMIM:613312
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Short stature, T... OMIM:618165
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy, Growt... OMIM:613987
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... OMIM:200990
Genitopatellar Syndrome
Hypoplastic ilia, Delayed eruption of teeth, Long philtrum, Micrognathia, Patellar aplasia, Knee ... ORPHA:85201
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long... ORPHA:3103
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Postnatal growth retardation, Decreased testicu... OMIM:616113
Meier-Gorlin Syndrome 2
Failure to thrive, Slender long bone, Micrognathia, Narrow mouth, Patellar aplasia, Smooth philtr... OMIM:613800
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Aplastic clavicle, Abnormal epiphysi... ORPHA:2554
Nail-Patella Syndrome
Elongated radius, Patellar hypoplasia, Cleft upper lip, Hypoplastic radial head, Limited elbow ex... OMIM:161200
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Failure to thrive, Patellar hypoplasia, Slender lon... OMIM:613803
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypopar... ORPHA:699
Camurati-Engelmann Disease
Carious teeth, Slender build, Sclerosis of skull base, Genu valgum, Diaphyseal sclerosis, Reduced... OMIM:131300
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic sp... OMIM:185070
Recombinant 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing... ORPHA:96167
Penoscrotal Transposition
Clinodactyly of the 5th finger, Micrognathia, Patellar aplasia ORPHA:2842
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Testicular atrophy, Bilateral ... OMIM:305400
Meier-Gorlin Syndrome 6
Microretrognathia, Failure to thrive, Sandal gap, Short middle phalanx of finger, Patellar aplasi... OMIM:616835
9Q33.3Q34.11 Microdeletion Syndrome
Tented philtrum, Bilateral coxa valga, Patellar hypoplasia, Narrow mouth, Patellar aplasia, Talip... ORPHA:495818
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Mosaic Trisomy 8
Camptodactyly of finger, Micrognathia, Patellar aplasia, Narrow pelvis bone, Clinodactyly of the ... ORPHA:96061
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Patellar aplasia, Lim... OMIM:218600
Lesch-Nyhan Syndrome
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Short stature, Testicul... OMIM:300322
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Severe... ORPHA:3472
Singleton-Merten Syndrome 1
Joint subluxation, Shallow acetabular fossae, Carious teeth, Hypoplasia of the maxilla, Eruption ... OMIM:182250
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Genitopatellar Syndrome
Congenital hip dislocation, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Micrognat... OMIM:606170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Cryptorchidism, Ectopic kidney, Short stature, Hypospadias, Test... ORPHA:3063
Steinert Myotonic Dystrophy
Cholelithiasis, Dilated cardiomyopathy, Male hypogonadism, Impotence, Decreased response to growt... ORPHA:273

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.

Phenotype Allele Zygosity Sex Life Stage
Knee joint - developmental and structural abnormality Rhobtb3tm1a(KOMP)Wtsi HOM Early adult

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 Rhobtb3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rhobtb3tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rhobtb3tm1a(KOMP)Wtsi PMC6459510
RHOBTB3 promotes proteasomal degradation of HIFα through facilitating hydroxylation and suppresses the Warburg effect. Cell research (July 2015) Rhobtb3tm1a(KOMP)Wtsi PMC4559813
Expression analysis of mouse Rhobtb3 using a LacZ reporter and preliminary characterization of a knockout strain. Histochemistry and cell biology (June 2014) Rhobtb3tm1a(KOMP)Wtsi 24923387
Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen. Disease models & mechanisms (March 2014) Rhobtb3tm1a(KOMP)Wtsi PMC4007403

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rhobtb3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rhobtb3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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