banner
Genes Phenotypes Help, News, Blog

Gene: Rhobtb3 MGI:1920546

Log in to follow

Gene Summary

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

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

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 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

View images
Legacy Phenotype Associated Images
Rhobtb3tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
head, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
body, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
forearm, WT, Female, WTSI

View all 186 images

Rhobtb3tm1a(KOMP)Wtsi
back skin, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
back skin, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

View all 9 images

Rhobtb3tm1a(KOMP)Wtsi
right eye, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
left eye, WT, Female, WTSI
Rhobtb3tm1a(KOMP)Wtsi
left eye, WT, Female, WTSI

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
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... OMIM:147891
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... OMIM:618363
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Postnatal growth retardation, Cryptorchidism, Microves... OMIM:610198
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Thick lower lip vermil... ORPHA:2058
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiph... OMIM:613805
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... OMIM:609981
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
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Hypophosphatasia, Adult
Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Ca... OMIM:146300
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Thick... OMIM:613804
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
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
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardi... OMIM:235200
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Failure to thrive OMIM:226700
Microphthalmia, Syndromic 9
Severe short stature, Ventricular septal defect, Short stature, Cryptorchidism, Hypoplastic left ... OMIM:601186
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Microdontia, C... OMIM:269300
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Pycnodysostosis
Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Per... OMIM:265800
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Dental crowding, Fifth finger ... OMIM:257850
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... OMIM:608612
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio... OMIM:620099
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
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
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Mirage Syndrome
Lymphopenia, Hypospadias, Short stature, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Cryp... OMIM:617053
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:277440
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger sy... OMIM:224690
Nail-Patella Syndrome
Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Knee flexion contractu... ORPHA:2614
Microcephaly, Short Stature, And Limb Abnormalities
Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,... OMIM:617604
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Knee flexion contracture, Downturned corners of mouth, High palate, Intercrural pte... OMIM:265000
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu v... ORPHA:221016
Gracile Bone Dysplasia
Short stature, Asplenia, Hypoplastic spleen, Micropenis, Failure to thrive OMIM:602361
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Short metacarpal, Premature ovarian insufficiency, Small for gestation... ORPHA:221008
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... ORPHA:1798
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Dental crowding, Increased subcutaneou... ORPHA:2457
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... ORPHA:465508
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... OMIM:613987
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula... OMIM:618165
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Genu varum OMIM:613312
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Cryptorchidism, Patel... ORPHA:85201
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Cryptorchidism, ... ORPHA:2554
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Meier-Gorlin Syndrome 2
Micrognathia, Narrow mouth, Patellar aplasia, Slender long bone, Camptodactyly, Failure to thrive... OMIM:613800
Meier-Gorlin Syndrome 3
Microretrognathia, Aplasia/Hypoplasia of the patella, Micrognathia, Cryptorchidism, Hypoplasia of... OMIM:613803
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Elevated hemoglobin ... OMIM:616113
Nail-Patella Syndrome
Glenoid fossa hypoplasia, Cleft upper lip, Patellar aplasia, Hypoplastic radial head, Patellar hy... OMIM:161200
Recombinant 8 Syndrome
Camptodactyly of finger, Micrognathia, Cleft upper lip, Cryptorchidism, Abnormality of the dentit... ORPHA:96167
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Cario... OMIM:131300
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, An... OMIM:185070
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Penoscrotal Transposition
Clinodactyly of the 5th finger, Patellar aplasia, Micrognathia ORPHA:2842
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Small for gestational age, Cryptorchidism, Patellar aplasia, Cleft... OMIM:616835
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Cryptorchidism, Patellar aplasia, Tented philtrum, Patellar hypoplasia, ... ORPHA:495818
Mosaic Trisomy 8
Camptodactyly of finger, Micrognathia, Cryptorchidism, Patellar aplasia, Cleft palate, Narrow pel... ORPHA:96061
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Lesch-Nyhan Syndrome
Short stature, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicul... OMIM:300322
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Bifid uvula, Hypoplasia o... OMIM:218600
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... ORPHA:3472
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxi... OMIM:182250
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Cryptorchid... OMIM:606170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
X-Linked Intellectual Disability, Snyder Type
Short stature, Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Test... ORPHA:3063
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter