Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
single kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
small kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
eye hemorrhage Vstm2aem1(IMPC)Mbp HOM   Early adult 8.93×10-05

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Nephronophthisis 16
Hypertrophic cardiomyopathy, Nephronophthisis, Pulmonic stenosis, Polycystic kidney dysplasia, Ao... OMIM:615382
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... ORPHA:93101
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Nephronophthisis, St... OMIM:602088
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Hypotension, Acute kidney injury, Nephropathy, Chronic kidney d... ORPHA:85445
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Renal agenesis, Unilateral renal agenesis OMIM:601076
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Abn... ORPHA:2260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hypertension, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kid... OMIM:263200
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias OMIM:600057
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valv... OMIM:615415
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Renal Agenesis
Hypertension, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureter... ORPHA:411709
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Raynaud phenomenon, Nephropathy, Renal insufficiency, Supraventricular arr... OMIM:611773
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Pulmonary arterial hypertension, Unilateral renal agenesis OMIM:608406
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Retinal Venous Beading
Retinal neovascularization, Nephritis, Vitreous hemorrhage OMIM:180080
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney OMIM:615993
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephro... ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Splenomegaly, Hepatosplen... ORPHA:464329
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Ehlers-Danlos Syndrome, Classic-Like
Bruising susceptibility, Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Braddock Syndrome
Pulmonary arterial hypertension, Unilateral renal agenesis ORPHA:52047
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis OMIM:616603
Coach Syndrome 1
Hepatomegaly, Hypertension, Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, S... OMIM:216360
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis OMIM:618142
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Petechiae, Decreased glomerular filtration rate, Melena, Chronic ki... ORPHA:340
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Proximal tubulopathy, Splenomegaly, Abnormal bleeding, Unilateral renal agenesis, H... OMIM:614576
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Horseshoe kidney, Left-to-right shunt, Recurrent urinary tract infections, Micropeni... ORPHA:363444
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb... OMIM:617641
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Antenatal intracerebr... OMIM:608836
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular s... OMIM:276700
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Renal cyst, Nephrolithiasis, Glycosuria... OMIM:137920
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hypertension, Decreased glomerular filtration r... OMIM:232200
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Thymic Aplasia With Fetal Death
Ureteral agenesis, Renal agenesis OMIM:274210
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Hypertrophic cardiomyopa... OMIM:617303
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypertension, Membranoproliferative glomerulonephritis, Proteinuria, Enlar... ORPHA:251004
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Splenomegaly, Diffuse alveolar hemorrhage, Abnormal lef... ORPHA:99827
Emanuel Syndrome
Renal hypoplasia, Pulmonic stenosis, Micropenis, Unilateral renal agenesis, Aortic valve stenosis ORPHA:96170
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Abnormal renal cortex ... ORPHA:464321
Lujo Hemorrhagic Fever
Myocarditis, Ecchymosis, Shock, Subconjunctival hemorrhage, Bradycardia, Excessive bleeding after... ORPHA:319213
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Aortic valve stenos... OMIM:208540
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Renal hypoplasia, Micropenis, Unilateral renal agenesis, Ectopic kidney OMIM:616541
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hypertension, Decreased glomerular filtration r... OMIM:232220
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Unilateral renal agenesis OMIM:308205
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis OMIM:618419
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Lymphoid Interstitial Pneumonia
Hepatomegaly, Pulmonary venous hypertension, Raynaud phenomenon, Enlarged kidney ORPHA:79128
Cockayne Syndrome Type 3
Renal hypoplasia, Hydronephrosis, Hepatomegaly, Urinary retention, Subdural hemorrhage, Retinal h... ORPHA:90324
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Renal dysplasia, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicour... ORPHA:2237
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Pulmonic stenosis, Unilateral renal agenesis OMIM:616737
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... OMIM:614527
Endocrine-Cerebroosteodysplasia
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Heavy proteinuria, Nephrotic syndrome, Mitral regurgitation, Pulmona... ORPHA:505248
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal agenesis, Renal dysplasia ORPHA:2578
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Pelvic kidney, Unilateral renal agenesis OMIM:156810
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... OMIM:130650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertension, Menorrhagia, Prolonged bleeding following procedure, Nephrocalcinosis... ORPHA:79259
Nephronophthisis 13
Renal hypoplasia, Mild proteinuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:614377
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
H Syndrome
Facial telangiectasia, Micropenis, Hepatosplenomegaly, Abnormal cardiovascular system physiology,... ORPHA:168569
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Nephroblastoma, Enlarged kidney ORPHA:276280
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Pelvic kidney, Aortic regurgitation, Renal cyst, Micropenis, Unilate... ORPHA:464311
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney OMIM:200995
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Vitreous hemorrhage,... ORPHA:40923
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Exudative Vitreoretinopathy 1
Retinal neovascularization, Vitreous hemorrhage OMIM:133780
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Marburg Hemorrhagic Fever
Shock, Pericarditis, Petechiae, Prolonged prothrombin time, Subconjunctival hemorrhage, Tachycard... ORPHA:99826
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hydronephrosis, Pelvic kidney, Aortic regurgitation, Renal cyst, Micropenis, Unilate... ORPHA:464306
Leptospirosis
Hepatomegaly, Pericarditis, Retinal hemorrhage, Subconjunctival hemorrhage, Pulmonary hemorrhage,... ORPHA:509
Alagille Syndrome 2
Renal hypoplasia, Hypertension, Renal tubular acidosis, Hematuria, Renal cyst, Pulmonic stenosis,... OMIM:610205
Autosomal Recessive Polycystic Kidney Disease
Hypertension, Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, O... ORPHA:731
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis, Enuresis, Aortic valve stenosis ORPHA:96121
Leopard Syndrome 1
Hypospadias, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Bundle branch bloc... OMIM:151100
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent urinary tract infections, Unilateral renal agenesis ORPHA:221139
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Penoscrotal Transposition
Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasia, Cardiomyopathy, Abnormal... ORPHA:2842
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Vitreoretinochoroidopathy
Retinal neovascularization, Vitreous hemorrhage OMIM:193220
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Pelvic kidney, Abnormal renal collecting system morphology, Unilateral renal agenesi... ORPHA:468631
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Hematuria, Vasculitis in the skin, Raynaud phenomenon, Punctate vasculitis skin l... OMIM:192315
Cockayne Syndrome
Renal hypoplasia, Hepatomegaly, Hypertension, Nephrotic syndrome, Retinal hemorrhage, Abnormal re... ORPHA:191
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney OMIM:602200
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Renal cyst, Micropenis, Ureteropel... OMIM:270400
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Tricuspid regurgitation, Hypoplas... ORPHA:79328
Familial Exudative Vitreoretinopathy
Retinal neovascularization, Vitreous hemorrhage, Macular telangiectasia ORPHA:891
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Hypertension, Abnormality of the urinary system, Micropenis, Unilateral renal agenes... ORPHA:95699
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Bilateral renal agenesis, Unilateral renal agenesis OMIM:619194
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Serkal Syndrome
Hypospadias, Abnormal penis morphology, Renal agenesis, Pulmonic stenosis, Hypoplasia of the bladder ORPHA:139466
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Chordee, Aortic regurgitation, Recurrent urinary tract infections, Micropenis, Aorti... ORPHA:268261
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Ureteral duplication, Congenital megaureter, Cardiomeg... ORPHA:116
Pseudoxanthoma Elasticum
Hypertension, Angina pectoris, Nephrocalcinosis, Restrictive cardiomyopathy, Telangiectasia of th... ORPHA:758
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Nephroblastoma, Enlarged kidney ORPHA:500095
Leprechaunism
Hypertrophic cardiomyopathy, Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Hyperc... ORPHA:508
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Zttk Syndrome
Horseshoe kidney, Aortic regurgitation, Polyuria, Unilateral renal agenesis OMIM:617140
Autosomal Dominant Cutis Laxa
Mitral regurgitation, Aortic regurgitation, Pyelonephritis, Congestive heart failure, Unilateral ... ORPHA:90348
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Retinoblastoma
Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage, Hyphema ORPHA:790
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Unilateral renal agenesis ORPHA:261337
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Waldenström Macroglobulinemia
Hepatomegaly, Gingival bleeding, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Vasculitis... ORPHA:33226
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Proteinuria, Renal agenesis, Hypertension OMIM:191830
Idiopathic Aplastic Anemia
Ecchymosis, Epistaxis, Gingival bleeding, Retinal hemorrhage ORPHA:88
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... ORPHA:91500
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis OMIM:192050
Digeorge Syndrome
Renal dysplasia, Hydronephrosis, Unilateral renal agenesis OMIM:188400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Transient ischemic attack, Unilateral renal agenesis, Ischemic stroke, Bilatera... ORPHA:500150
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Cardiomyopa... OMIM:312870
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Hydronephrosis, Hyphema, Chordee, Pelvic kidney, Renal duplication, Pulmonic stenosi... ORPHA:261552
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris OMIM:177850
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Pallister-Hall Syndrome
Hypospadias, Renal dysplasia, Bilateral renal agenesis, Micropenis, Unilateral renal agenesis, Ec... ORPHA:672
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Pelvic kidney, Micropenis, Hepatosplenomegaly, Unilateral renal agenesis, Ischem... OMIM:619503
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
8Q24.3 Microdeletion Syndrome
Bilateral renal hypoplasia, Pelvic kidney, Gastrointestinal hemorrhage, Unilateral renal agenesis... ORPHA:508488
Rift Valley Fever
Gingival bleeding, Hematuria, Melena, Abnormal bleeding, Hematemesis, Retinal hemorrhage ORPHA:319251
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Lumbar Syndrome
Hypospadias, Renal agenesis, Renal duplication, Micropenis, Vesicoureteral reflux, Bladder exstrophy ORPHA:83628
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Renal cell carcinoma, Mult... ORPHA:93111
Familial Drusen
Macular hemorrhage ORPHA:75376
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis ORPHA:99646
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage OMIM:608710
Incontinentia Pigmenti
Pulmonary arterial hypertension, Telangiectasia of the skin, Cerebral ischemia, Congestive heart ... ORPHA:464
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Hypertension, Nephrocalcinosis, Pulmonary arterial hypertension, Cardiomegaly,... ORPHA:51608
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Incontinentia Pigmenti
Retinal hemorrhage OMIM:308300
Trichinellosis
Retinal hemorrhage ORPHA:863

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.

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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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