Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal joint morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 6.08×10-05
decreased body length Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 6.45×10-13
abnormal snout morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 8.27×10-05
decreased lean body mass Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 4.62×10-05
decreased bone mineral content Rhobtb3tm1a(KOMP)Wtsi HOM   Early adult 6.76×10-05
decreased body weight Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 5.30×10-07
abnormal tooth morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 1.22×10-07
abnormal cranium morphology Rhobtb3tm1a(KOMP)Wtsi HOM Early adult 5.94×10-05

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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
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.



9 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
Matching phenotypes Source
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... ORPHA:2501
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Cleft palate, Patellar aplasia, High palate, Flat capital femora... OMIM:147891
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Knee dislocation, Cleft palate, Micrognathia, Pierre-Robin sequence, High palate, ... OMIM:618363
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Abnormality of pelv... OMIM:265800
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... OMIM:265900
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me... OMIM:601668
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Dental Ankylosis
Mandibular prognathia, Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel mor... ORPHA:1077
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Tibial Aplasia-Ectrodactyly Syndrome
Popliteal pterygium, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split... ORPHA:3329
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... OMIM:129540
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Postnatal growth retardation, Increased hepatic glyco... OMIM:232700
Hypogonadism, Male
Hypospadias, Micropenis, Male hypogonadism, Testicular atrophy OMIM:241100
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Syndactyly, Broad ha... OMIM:613684
Fryns-Smeets-Thiry Syndrome
Thick lower lip vermilion, Micrognathia, Cachexia, Patellar aplasia, Short philtrum, Wide mouth, ... ORPHA:2058
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Anemia, Pure red cell aplasia, Hypogonadism OMIM:618165
Laurin-Sandrow Syndrome
Absent tibia, Patellar aplasia, Triphalangeal thumb, Fibular duplication, Absent radius, Short fo... OMIM:135750
Eiken Syndrome
Short middle phalanx of finger, Oligodontia, Pseudoepiphyses, Long hallux, Type A1 brachydactyly,... OMIM:600002
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Hypospadias, Intrauterine growth retard... OMIM:610198
Eem Syndrome
Carious teeth, Widely spaced teeth, Microdontia, Finger syndactyly, Selective tooth agenesis, Abn... ORPHA:1897
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Intrauterine growth retardation, Short stature, Lymphadenopa... OMIM:609981
Meier-Gorlin Syndrome 5
Micrognathia, Patellar aplasia, Long philtrum, Failure to thrive, Slender long bone, Hypoplasia o... OMIM:613805
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple... OMIM:273050
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Meier-Gorlin Syndrome 4
Thick lower lip vermilion, Micrognathia, Patellar aplasia, Failure to thrive, Genu recurvatum, Na... OMIM:613804
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Premature loss of permanent teeth, Rickets, Osteomalacia, Arthr... OMIM:146300
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocy... OMIM:613987
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, High palate, Microdontia, Broad long bones, Mandibular prognathia, Cub... OMIM:269300
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Short metacarpal, Mesomelia, ... OMIM:617604
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sa... OMIM:617102
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Broad long bones, Long philtrum... OMIM:257850
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Amenorrhea, Azoospermia, Hypogonadotr... OMIM:235200
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Enlargement of the w... OMIM:277440
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Delayed closure of the anterior fontanelle, Wormian bones, Epiphyseal streaking, C... OMIM:604922
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Pulp calcification, Short middle phala... OMIM:606895
Microphthalmia, Syndromic 9
Horseshoe kidney, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Renal h... OMIM:601186
Albers-Schönberg Osteopetrosis
Carious teeth, Abnormality of epiphysis morphology, Joint dislocation, Arthritis, Abnormality of ... ORPHA:53
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Nail-Patella Syndrome
Abnormality of the knee, Talipes equinovarus, Cubitus valgus, Contracture of the distal interphal... ORPHA:2614
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Crisponi/Cold-Induced Sweating Syndrome 1
Carious teeth, Micrognathia, High palate, Adducted thumb, Talipes equinovarus, Long philtrum, Tap... OMIM:272430
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Mirage Syndrome
Hypospadias, Adrenal insufficiency, Intrauterine growth retardation, Leukopenia, Short stature, A... OMIM:617053
Rothmund-Thomson Syndrome Type 2
Carious teeth, Genu varum, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of t... ORPHA:221016
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Rothmund-Thomson Syndrome Type 1
Carious teeth, Genu varum, Patellar aplasia, Microdontia, Abnormality of the radial head, Small f... ORPHA:221008
Carious teeth, Obtuse angle of mandible, Delayed cranial suture closure, Hypoplasia of the maxill... ORPHA:763
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Genu varum, Genu valgum, Coxa valga, Hypoplasia of teeth OMIM:613312
Multiple Pterygium Syndrome, Escobar Variant
Cleft palate, Talipes equinovarus, Syndactyly, Dysplastic patella, Micrognathia, High palate, Pat... OMIM:265000
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Amen... ORPHA:465508
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Growth delay, Megaloblastic anemia, Cardi... OMIM:222300
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Macroglossia, Abnormality of epiphysis morphology, Bow... ORPHA:1798
Gracile Bone Dysplasia
Short stature, Asplenia, Failure to thrive, Micropenis, Hypoplastic spleen OMIM:602361
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Epiphyseal deformities of tubular bones, Wide mouth, Cervical... OMIM:253000
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Malar flattening, Finger s... OMIM:274000
Roberts Syndrome
Cleft palate, Phocomelia, Aplasia/Hypoplasia of the thumb, Malar flattening, Proximal placement o... ORPHA:3103
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Orofaciodigital Syndrome Type 2
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... ORPHA:2751
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Genitopatellar Syndrome
Micrognathia, Patellar aplasia, Talipes equinovarus, Long philtrum, Delayed eruption of teeth, Kn... ORPHA:85201
Ear-Patella-Short Stature Syndrome
High, narrow palate, Micrognathia, Cleft palate, Patellar aplasia, Abnormality of epiphysis morph... ORPHA:2554
Nail-Patella Syndrome
Cleft palate, Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Cleft ... OMIM:161200
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Cranial hyperostosis, Mandibular prognathia, Osteopetrosis, Diaphyseal sclerosis, ... OMIM:259710
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Renal sodium wasting, Elevated serum 11-deoxycortisol, F... ORPHA:556037
Recombinant 8 Syndrome
Micrognathia, Cleft palate, Patellar aplasia, Cleft upper lip, Gingival overgrowth, Downturned co... ORPHA:96167
Oslam Syndrome
Carious teeth, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:2760
Penoscrotal Transposition
Clinodactyly of the 5th finger, Micrognathia, Patellar aplasia ORPHA:2842
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Splenomegaly, Postnatal growth retardation, D... ORPHA:699
Meier-Gorlin Syndrome 6
Short middle phalanx of finger, Cleft palate, Patellar aplasia, Small for gestational age, Failur... OMIM:616835
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short stature, Failu... OMIM:305400
Camurati-Engelmann Disease
Carious teeth, Cortical thickening of long bone diaphyses, Abnormality of the ulna, Metaphyseal d... ORPHA:1328
9Q33.3Q34.11 Microdeletion Syndrome
Patellar aplasia, Bilateral coxa valga, Talipes equinovarus, Tented philtrum, Thin vermilion bord... ORPHA:495818
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Postnatal gr... ORPHA:288
Camurati-Engelmann Disease
Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Slender build, ... OMIM:131300
Mosaic Trisomy 8
Micrognathia, High palate, Cleft palate, Patellar aplasia, Narrow pelvis bone, Camptodactyly of f... ORPHA:96061
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Singleton-Merten Syndrome 1
Carious teeth, Expanded metacarpals with widened medullary cavities, Smooth philtrum, Eruption fa... OMIM:182250
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria OMIM:300322
Genitopatellar Syndrome
Micrognathia, Patellar aplasia, Talipes equinovarus, Congenital hip dislocation, Knee flexion con... OMIM:606170
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Yunis-Varon Syndrome
Short middle phalanx of finger, Syndactyly, Broad secondary alveolar ridge, Short toe, Abnormal p... ORPHA:3472
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Enamel-Renal Syndrome
Gingival overgrowth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Delayed eruption... ORPHA:1031
Lacrimoauriculodentodigital Syndrome
Carious teeth, Conical incisor, Hypodontia, Aplasia of the parotid gland, Absence of Stensen duct... OMIM:149730
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Short stature, Ectopic kidney, ... ORPHA:3063
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinom... ORPHA:273


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

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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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