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Gene: Rab32 MGI:1915094

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Gene Summary

Name:
RAB32, member RAS oncogene family
Synonyms:
2810011A17Rik

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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
increased kidney weight Rab32tm1b(KOMP)Wtsi HOM   Early adult 1.36×10-05
enlarged heart Rab32tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal heart morphology Rab32tm1b(KOMP)Wtsi HOM Early adult 0.00
hydrometra Rab32tm1b(KOMP)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance Rab32tm1b(KOMP)Wtsi HOM   Early adult 0.00

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
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 0.0% (0 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum 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 Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 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.

X-ray

XRay Images Hind Leg and Hip

4 Images

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Adult LacZ

LacZ Images Section

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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Human diseases caused by Rab32 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 Rab32 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertrophic cardio... OMIM:615382
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Hypertrophic cardio... OMIM:619902
Denys-Drash Syndrome
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous... OMIM:194080
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... OMIM:617805
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Enlarged polycystic ovaries ORPHA:90301
Meckel Syndrome, Type 8
Ambiguous genitalia, Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperech... OMIM:613885
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Common atrium, Bi... OMIM:608978
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Splenomegaly, Hepatomegaly OMIM:615285
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Urethral atresia, Enlarged kidney, Dextrocardia, Neonatal death, T... OMIM:314390
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy ORPHA:85447
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy, Neonatal death OMIM:614096
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Mitral valve... ORPHA:730
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Biventricular ... OMIM:618280
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... OMIM:146255
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplas... OMIM:130650
Congenital Myopathy 8
Cardiomegaly OMIM:618654
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... OMIM:306955
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... OMIM:273250
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, At... OMIM:208540
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... OMIM:618652
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... OMIM:608836
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V... ORPHA:2237
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Nephrotic syndrome OMIM:269920
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, A... ORPHA:3109
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Atrial septal defect, Nephritis, Hype... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Timothy Syndrome
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect OMIM:601005
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypopl... OMIM:601076
Hemochromatosis, Type 1
Azoospermia, Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splen... OMIM:235200
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Hepat... OMIM:256550
Meacham Syndrome
Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal defect, Ventricular septal d... ORPHA:3097
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Fixed Subaortic Stenosis
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... ORPHA:3092
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Mulibrey Nanism
Nephroblastoma, Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly OMIM:253250
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis OMIM:608022
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly, Car... OMIM:212140
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... ORPHA:85451
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... ORPHA:168563
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... OMIM:261740
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... OMIM:252920
Lumbar Syndrome
Vesicoureteral reflux, Renal duplication, Ambiguous genitalia, Bifid scrotum, Renal agenesis, Hyp... ORPHA:83628
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Alg9-Cdg
Hypoplasia of the bladder, Ventricular septal defect, Bicornuate uterus, Pericardial effusion, En... ORPHA:79328
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... ORPHA:99429
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria ORPHA:251004
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Coronary Arterial Fistula
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... ORPHA:2041
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent foramen ovale, Nephrotic syndrome, Enlarged kidney, Atrial septal defect, Hepatosplenomega... ORPHA:505248
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Bicornuate uterus, Renal malrotation, Hypoplastic ... OMIM:601186
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiomegaly, Right atrial enlargement OMIM:614473
Endocrine-Cerebroosteodysplasia
Ambiguous genitalia, Sex reversal, Microphallus, Enlarged kidney, Hypospadias, Cryptorchidism, Hy... OMIM:612651
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Hepatomegaly OMIM:255120
Glycogen Storage Disease Ia
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... OMIM:232200
Glycogen Storage Disease Ib
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... OMIM:232220
Exstrophy-Epispadias Complex
Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the ureter, Bifid uterus, Bifid pe... ORPHA:322
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hypertrophic cardiomyopathy, Hepatomegaly, Nephrocalcinosi... OMIM:276700
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Kaposiform Lymphangiomatosis
Pericardial effusion, Enlarged kidney, Hepatosplenomegaly, Multiple renal cysts, Splenomegaly ORPHA:464329
H Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the kidney, Enlarged kidney, Azoospermia,... ORPHA:168569
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Micropenis OMIM:613091
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Micropenis, Hy... OMIM:616897
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid ORPHA:42
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Unilateral renal agenesis OMIM:618188
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatomegaly,... OMIM:201475
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Labial hypertrophy, Long penis, Hypertrophic cardiomyopath... ORPHA:508
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... ORPHA:449395
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Abnormality of the kidney, Axial malrotation of the kidney, A... ORPHA:3320
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Congenital megaureter, Enlarged kidney, Hy... ORPHA:116
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormality of the lower urinary tract, Abnormal conce... ORPHA:391428
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, Abnormality of the kidne... OMIM:137920
46,Xy Sex Reversal 4
Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic junction obstru... OMIM:154230
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, Ventricular septal defect, Mul... ORPHA:500095
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly OMIM:200995
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, ... OMIM:252500
Ogden Syndrome
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Decrea... OMIM:300855
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Renal agenesis, ... OMIM:258040
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ovaries, Hepatomegaly, Proteinuria, N... ORPHA:79259
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Card... ORPHA:465508
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Sickle Cell Disease
Hematuria, Hepatomegaly, Cardiomegaly, Renal insufficiency, Splenomegaly OMIM:603903
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Aplasia of the vagina, Hypoplasia of the bladder, Multicystic kidney dysplasi... OMIM:614527
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Mogs-Cdg
External genital hypoplasia, Left ventricular hypertrophy, Hydrocele testis, Atrial septal defect... ORPHA:79330
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... ORPHA:363705
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... ORPHA:1329
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... ORPHA:57777
Danon Disease
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... OMIM:300257
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Mitral valve prolapse, At... OMIM:615873
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... ORPHA:731
Fucosidosis
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:349
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Bifid scrotum, Bil... ORPHA:90793
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Sex rever... ORPHA:168558
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Azoospermia, Atrial septal d... OMIM:602782
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Sandhoff Disease
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Sex rever... ORPHA:289548
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Neonatal death, Splenomegaly OMIM:608013
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:308552
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Hydronephrosis OMIM:614921
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Ventricular septal defect, Labial hypertrophy, Hepatomegaly, Cryptorchidism, ... ORPHA:96191
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Hydronephrosis, Splenomegaly, Ventricular septal defect, Transposition of the gre... OMIM:312870
Fucosidosis
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly OMIM:230000
Meckel Syndrome 14
Single ventricle, Polycystic kidney dysplasia, Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria ORPHA:268
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... OMIM:202010
Histiocytoid Cardiomyopathy
Ventricular septal defect, Renal cyst, Polycystic ovaries, Hepatomegaly, Cardiomegaly ORPHA:137675
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... OMIM:271520
Glycogen Storage Disease Ii
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... ORPHA:95430
Truncus Arteriosus
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... ORPHA:3384
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Vesicoureteral reflux, Ventricular septal defect, Renal malrotatio... OMIM:274000
Okamoto Syndrome
Urinary incontinence, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ... ORPHA:2729
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Mucopolysacchariduria, Hepato... ORPHA:581
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... ORPHA:1677
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, Ambiguous genitalia... ORPHA:90794
Williams Syndrome
Precocious puberty, Abnormal cardiac septum morphology, Abnormality of the bladder, Hypertrophic ... ORPHA:904
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Ventricular septal defect, Urethral valve, R... OMIM:107480
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Aplasia of the uterus, Unilateral renal agenesis OMIM:614083
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Yunis-Varon Syndrome
Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Hypospadias, Renovascu... ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Bohring-Opitz Syndrome
Nephroblastoma, Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology ORPHA:97297
Hydrolethalus Syndrome 1
Ventricular septal defect, Abnormal vagina morphology, Hypospadias, Bifid uterus, Complete atriov... OMIM:236680
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... ORPHA:284339
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Aminoaciduria, Dilatation of the ventricular c... OMIM:619991
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly ORPHA:51
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... ORPHA:75565
Neu-Laxova Syndrome 1
Patent foramen ovale, Ventricular septal defect, Renal agenesis, Bifid uterus, Stillbirth, Crypto... OMIM:256520
Coffin-Siris Syndrome 1
Ventricular septal defect, Hydroureter, Atrial septal defect, Ectopic kidney, Aplasia of the uter... OMIM:135900
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Epididymitis, Splenomegaly, Hepatomegaly OMIM:256040
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Nephrocalcinosis, Hyperphosphaturia, Cortical neph... ORPHA:51608
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Cystocele, Cryptorchidism, Uterin... OMIM:130050
Wolf-Hirschhorn Syndrome
Precocious puberty, Ventricular septal defect, Atrial septal defect, Aplasia of the uterus, Hypos... OMIM:194190
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... OMIM:182250
Vascular Ehlers-Danlos Syndrome
Mitral valve prolapse, Uterine rupture, Bladder diverticulum, Hypospadias, Renovascular hypertens... ORPHA:286
Pallister-Killian Syndrome
Ventricular septal defect, Renal dysplasia, Labial hypoplasia, Aplasia of the upper vagina, Hypop... OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649

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 Rab32

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 Rab32.

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

Title Journal IMPC Allele PubMed ID
Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis. Blood advances (August 2019) Rab32tm1a(KOMP)Wtsi Rab32tm1b(KOMP)Wtsi PMC6693013
Rab32-related antimicrobial pathway is involved in the progression of dextran sodium sulfate-induced colitis. FEBS Open Bio (September 2018) Rab32tm1a(KOMP)Wtsi PMC6168699
Analysis of the Rab GTPase Interactome in Dendritic Cells Reveals Anti-microbial Functions of the Rab32 Complex in Bacterial Containment. Immunity (February 2016) Rab32tm1c(KOMP)Wtsi Rab32tm1a(KOMP)Wtsi 26885862
Reporter Gene Silencing in Targeted Mouse Mutants Is Associated with Promoter CpG Island Methylation. PloS one (August 2015) Rab32tm1a(KOMP)Wtsi PMC4537176

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MGI Allele Allele Type Produced
Rab32tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rab32tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rab32tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rab32tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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