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Gene: Vstm2a MGI:2384826

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Gene Summary

Name:
V-set and transmembrane domain containing 2A
Synonyms:
Vstm2,  9330184N17Rik

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
small kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage Vstm2aem1(IMPC)Mbp HOM   Early adult 4.34×10-05
abnormal kidney morphology Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
single kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
abnormal caudal vertebrae morphology Vstm2aem1(IMPC)Mbp HOM   Early adult 3.38×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Vstm2a 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 Vstm2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Ureteral atresia, Vertebral segmentat... OMIM:618845
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po... OMIM:615382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypoplasia, Vertebral seg... OMIM:617661
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... ORPHA:3109
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti... OMIM:619902
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... OMIM:602088
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo... OMIM:615709
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Nephroblastoma, Sacral dimple, Enlarged kidney OMIM:618272
Braddock Syndrome
Unilateral renal agenesis, Short neck, Hemivertebrae, Scoliosis, Pulmonary arterial hypertension ORPHA:52047
Kaposiform Lymphangiomatosis
Abnormal bleeding, Abnormal thoracic spine morphology, Epidural hemorrhage, Epistaxis, Splenomega... ORPHA:464329
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Scoliosis, Cervical C2/C3 verte... OMIM:118100
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Meckel Syndrome, Type 8
Enlarged kidney, Short neck, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c... OMIM:611773
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio... OMIM:611555
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... ORPHA:411709
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Chopra-Amiel-Gordon Syndrome
Scoliosis, Unilateral renal agenesis OMIM:619504
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morpholo... OMIM:314390
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Hemorrhagic Fever-Renal Syndrome
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... ORPHA:340
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Short neck, Ectopic kidney, Vertebral segmentation defect, Renal dysplasia ORPHA:2578
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Scoliosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull... OMIM:216360
Hogue-Janssen Syndrome 2
Scoliosis, Unilateral renal agenesis OMIM:616362
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Emanuel Syndrome
Recurrent urinary tract infections, Sacral dimple, Unilateral renal agenesis, Kyphosis, Renal hyp... OMIM:609029
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Fused cervical vertebrae, Spina bifida occulta, Butter... OMIM:619227
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney OMIM:613680
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Bruising susceptibility, Unilateral renal agenesis OMIM:606408
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Proximal tubulopathy, H... OMIM:614576
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cystic renal... OMIM:615415
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ... ORPHA:363444
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Unilateral renal agenesis OMIM:617190
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Short neck, Renal hypoplasia, Ureteral agenesis, Aplas... OMIM:617666
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... ORPHA:464321
Emanuel Syndrome
Sacral dimple, Unilateral renal agenesis, Kyphoscoliosis, Renal hypoplasia, Micropenis, Pulmonic ... ORPHA:96170
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Os odontoideum, Unilateral renal agenesis OMIM:616603
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Kyphosis, Scoliosis, Vesicoureteral reflux, Micropenis OMIM:619951
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Short neck, Congestive heart failure, Splenomegaly, Nephrotic syndrome... OMIM:617303
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Glycogen Storage Disease Ia
Abnormal bleeding, Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glom... OMIM:232200
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Excessive bleeding after a venipuncture, Myocarditis, Oliguria, Subco... ORPHA:319213
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... ORPHA:251004
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom... ORPHA:99827
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci... OMIM:276700
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... OMIM:194080
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Lumbar hyperlordosis, Short neck, Heparan sulf... ORPHA:505248
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypoplasia, Micropenis OMIM:616541
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization OMIM:193235
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Scoliosis, Pulmonic stenosis, Hydronephrosis OMIM:616737
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Focal segmental glomerulo... OMIM:232220
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Micropenis, S... ORPHA:464311
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiom... OMIM:252500
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Stage 5 chronic kidney dise... OMIM:208540
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Spinal canal stenosis, Hypoplastic vertebral bodies, Scoliosis, Narrow... OMIM:101800
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Telangiectasia of the skin, Enlarged kidney, Scoliosis ORPHA:276280
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney OMIM:181510
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Short neck OMIM:200995
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Ectopic kidney, Hemivertebrae, Renal hypoplasia, Pulmonic stenosis, Scoliosis OMIM:212780
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Hepatomegaly, Pulmonary venous hypertension, Enlarged kidney ORPHA:79128
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Micropenis, S... ORPHA:464306
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Renal hypoplasia, Micropenis OMIM:614083
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Hepatomegaly, Proteinuria, Epistaxis, Prolonged bleeding following procedure, ... ORPHA:79259
Leopard Syndrome 1
Bundle branch block, Hypospadias, Unilateral renal agenesis, Short neck, Kyphoscoliosis, Micropen... OMIM:151100
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Renal insufficiency, Back pain, Excessive bl... ORPHA:99826
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
H Syndrome
Abnormality of the kidney, Abnormal cardiovascular system physiology, Hepatosplenomegaly, Facial ... ORPHA:168569
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short neck, Hemivertebrae, Scoliosis,... OMIM:213980
7Q11.23 Microduplication Syndrome
Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Hemivertebrae, Enuresis, Aorti... ORPHA:96121
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Bilateral renal agenesis, Scoliosis OMIM:619194
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis ORPHA:221139
Eales Disease
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... ORPHA:40923
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal ... ORPHA:509
Igg4-Related Kidney Disease
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Hydronephrosis, Unilateral renal agenesis, Vertebral hypoplasia OMIM:308050
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... ORPHA:731
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Sacrococcygeal pilonidal abnormality, Microphallus, Abnor... ORPHA:468631
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... OMIM:192315
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv... ORPHA:95699
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Tricuspid regurgitation, Ureteral hypoplasia, Short neck... ORPHA:79328
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Sacral dimple, Hy... OMIM:270400
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... OMIM:181270
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Absence of the sacrum, Renal agenesis, Block vertebrae, Cardiomegaly, Horseshoe kid... OMIM:306955
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Zttk Syndrome
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Kyphosis, Hemivertebrae, Horseshoe kid... OMIM:617140
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Myoectodermal Gonadal Dysgenesis Syndrome
Scoliosis, Unilateral renal agenesis OMIM:618419
Neurooculorenal Syndrome
Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr... OMIM:620305
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Recurrent urinary tract infections, Sacral dimple, Hypospadias, Unilateral ... ORPHA:268261
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Nephroblastoma, Bifid uret... ORPHA:500095
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Scoliosis, Unilateral renal agenesis ORPHA:457284
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Pyelonephritis, Abnorm... ORPHA:90348
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization ORPHA:891
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Tricuspid regurgitation, Scoliosis, Unilateral renal agenesis ORPHA:261337
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Short neck, Ventricular tachycardia, Premature ventricul... OMIM:300855
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperlordosis, Heart murmur, Enuresis nocturna, Mitral regurg... OMIM:615873
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Thoracic scoliosis, Abnormality of the kidney, Unilateral renal agen... ORPHA:508488
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Abnormality of the cervical spine, Unilateral renal agenesis OMIM:154400
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Pulmonic stenosis ORPHA:139466
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... ORPHA:116
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... OMIM:177850
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
Atelis Syndrome 2
Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis OMIM:620185
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Congestive heart failu... ORPHA:33226
Retinoblastoma
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage ORPHA:790
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen... OMIM:308205
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Nephroblastoma, Splenomegaly, Renal cyst, Duplication of renal pelvis,... OMIM:312870
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Transient ischemic attack, Unilateral renal agenesis, Bilateral renal dyspl... ORPHA:500150
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short neck, Renal hypoplasia/aplasia, Abnormal form... ORPHA:3015
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Digeorge Syndrome
Renal insufficiency, Pilonidal sinus, Unilateral renal agenesis, Splenomegaly, Hydronephrosis, Sc... OMIM:188400
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hy... OMIM:618280
Idiopathic Aplastic Anemia
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding ORPHA:88
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Sacral dimple, Thoracolumbar scoliosis, Unilateral renal agenesis, Portal hypertension, Hyperlord... OMIM:619503
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Rift Valley Fever
Abnormal bleeding, Back pain, Hematemesis, Retinal hemorrhage, Melena, Hematuria, Gingival bleeding ORPHA:319251
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Hemivertebrae, Bilateral renal agenesis, ... ORPHA:672
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Hyphema, Micropenis, Duplication... ORPHA:261552
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Short neck, D-2-hydroxyglutaric aciduria, Irregular vertebral endplate... ORPHA:99646
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Epispadias, Ves... OMIM:258040
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp... OMIM:609049
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Scol... ORPHA:464
Familial Drusen
Macular hemorrhage ORPHA:75376
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Incontinentia Pigmenti
Hemivertebrae, Retinal hemorrhage, Kyphoscoliosis OMIM:308300
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Retinal hemorrhage, Nephrocalcinosis,... ORPHA:51608
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Trichinellosis
Retinal hemorrhage ORPHA:863
Sympathetic Ophthalmia
Retinal hemorrhage ORPHA:79098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Ischemic stroke, Retinal hemorrhage, Cerebral hemorrhage OMIM:175780

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 Vstm2a

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 Vstm2a.

No publications found that use IMPC mice or data for Vstm2a.

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
Vstm2atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vstm2atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Vstm2atm223(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Vstm2atm223(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Vstm2aem1(IMPC)Mbp Intra-exon deletion Mice

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