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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
eye hemorrhage Vstm2aem1(IMPC)Mbp HOM   Early adult 3.53×10-05
abnormal kidney morphology Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
small kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
abnormal caudal vertebrae morphology Vstm2aem1(IMPC)Mbp HOM   Early adult 3.38×10-07
enlarged kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
single kidney Vstm2aem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Vstm2aem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentation defect, Ureteral atre... OMIM:618845
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Vertebral segmentation defec... OMIM:617661
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed... OMIM:619902
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Persistent cloac... OMIM:615709
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Protein... ORPHA:85445
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Abnormality of the vertebral column, Ectopic kidney, Renal agenesis OMIM:601076
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis, Enlarged kidney, Nephroblastoma OMIM:618272
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal sacrum morphology, Abnormal form ... ORPHA:464329
Braddock Syndrome
Unilateral renal agenesis, Short neck, Pulmonary arterial hypertension, Hemivertebrae, Scoliosis ORPHA:52047
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Meckel Syndrome, Type 8
Short neck, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Abnormality of the kidney... OMIM:118100
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal hemorrhage, Hematuria, Renal cyst, Raynaud phenomenon, Supraventricu... OMIM:611773
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... ORPHA:3109
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Scoliosis OMIM:619504
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Diaphanospondylodysostosis
Unossified sacrum, Delayed vertebral ossification, Nephroblastomatosis, Horseshoe kidney, Nephrog... OMIM:608022
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
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
Abnormal vertebral morphology, Abnormality of the vertebral column, Hydronephrosis, Urethral atre... OMIM:314390
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia OMIM:618142
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,... ORPHA:340
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis, Scoliosis, Kyphosis OMIM:620511
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Scoliosis OMIM:618494
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Scoliosis OMIM:616362
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Vertebral segmentation defect, Short neck, Ectopic kidney, Renal dysplasia ORPHA:2578
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec... OMIM:609029
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Butterfly vertebrae, Spina bifida occulta, Fused cervi... OMIM:619227
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux, Bruising susceptibility OMIM:606408
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Abnormal bleeding, Hyperechogenic kidneys, Splen... OMIM:614576
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hepatomegaly, Enlarged kid... OMIM:615415
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Spondylolysis, Hy... ORPHA:464321
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormality of t... ORPHA:363444
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Scoliosis, Kyphosis OMIM:617190
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Vesicoureteral reflux, Micropenis, Scoliosis, Kyphosis OMIM:619951
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Sacral dimple, Kyphoscoliosis... ORPHA:96170
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis, Os odontoideum OMIM:616603
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Short neck, Ectopic kidney, Pelvic k... OMIM:610832
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:617303
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Arrhy... OMIM:608836
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Abnormal bleeding, Decreased glomerular filtration rate, Neph... OMIM:232200
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Shock, Renal insufficiency, Excessive bleeding after a venipuncture, Ecchy... ORPHA:319213
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Hypertension, Enlar... ORPHA:251004
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Hematuria, Hepatomegaly, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bu... ORPHA:99827
Tyrosinemia, Type I
Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hypertroph... OMIM:276700
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Heparan sulfate excretion in urine, Hepato... ORPHA:505248
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis, Persistent patent ductus venosus, Hepatomegaly OMIM:620454
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria ORPHA:79284
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Subdural hemorrhage,... ORPHA:90324
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Micropenis, Ectopic kidney OMIM:616541
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Vitreous hemorrhage OMIM:193235
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Congestive he... OMIM:252500
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Scoliosis, Pulmonic stenosis OMIM:616737
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Hydronephros... ORPHA:464311
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Sple... OMIM:208540
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Spinal canal stenosis, Narrow vertebral interpedicular distance, Hypop... OMIM:101800
Lymphoid Interstitial Pneumonia
Hepatomegaly, Pulmonary venous hypertension, Raynaud phenomenon, Enlarged kidney ORPHA:79128
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Scoliosis, Enlarged kidney, Nephroblastoma ORPHA:276280
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis OMIM:608980
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Ectopic kidney, Hemivertebrae, Scoliosis, Pulmonic stenosis OMIM:212780
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Hydronephros... ORPHA:464306
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Short neck, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Scoliosis, Enlarged kidney OMIM:613091
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H... OMIM:174000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Nephrocalcinosis, Abnormal bleeding, Bruising susceptibility, Stage 5 chronic kidney d... ORPHA:79259
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Hypoplastic sacrum, Short neck, Micropenis OMIM:614083
Leopard Syndrome 1
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bund... OMIM:151100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Renal... ORPHA:99826
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis OMIM:620654
Caudal Regression Syndrome
Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnormality of the ureter, Renal insufficiency,... ORPHA:3027
H Syndrome
Hepatosplenomegaly, Facial telangiectasia, Abnormal cardiovascular system physiology, Abnormality... ORPHA:168569
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Short neck, Beaking of vertebral bodies, Hemivertebrae, Vertebral fusi... OMIM:213980
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Arteritis, Urinary bladder inflammation, Urethritis,... ORPHA:449395
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Short neck, Scoliosis, Kyphosis OMIM:619194
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Hydronephrosis, Short neck, Hemive... ORPHA:96121
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Hyperlordosis, Recurrent urinary tract infections ORPHA:221139
Eales Disease
Epistaxis, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic stroke, Vit... ORPHA:40923
Leptospirosis
Acute kidney injury, Hypotension, Pulmonary hemorrhage, Retinal hemorrhage, Arrhythmia, Cellular ... ORPHA:509
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis, Scoliosis, Vertebral hypoplasia OMIM:308050
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Splenomegaly, Retinal hemorrhag... ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... ORPHA:468631
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Hematuria, Proteinuria, Telangiect... OMIM:192315
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Recurrent urinary tract infections, H... ORPHA:731
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Cardiomyopathy, Abnormalit... ORPHA:2842
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Unilateral renal agenesis, Abnormality of the urinary system, Dila... ORPHA:95699
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, Renal insu... OMIM:181270
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Bruising susceptibilit... ORPHA:758
Alg9-Cdg
Hypoplasia of the bladder, Tricuspid regurgitation, Abnormal renal artery morphology, Hydronephro... ORPHA:79328
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Hypert... OMIM:270400
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Renal agenesis, Horseshoe kidney, Mitral stenosis, Cardio... OMIM:306955
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Zttk Syndrome
Aortic regurgitation, Unilateral renal agenesis, Horseshoe kidney, Polyuria, Hemivertebrae, Scoli... OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Dilatation of the renal p... ORPHA:268261
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Scoliosis OMIM:618419
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Scoliosis, Hypospadias ORPHA:487796
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Spina bifida occulta, Renal malrotati... ORPHA:500095
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia ORPHA:891
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Unilateral renal agenesis, Scoliosis, Sacral dimple ORPHA:261337
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Pyelonephritis, Mitral... ORPHA:90348
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Scoliosis ORPHA:457284
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Cardiomegaly, Pr... OMIM:300855
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Mitral regurgitation, Hyperlordosis, Heart... OMIM:615873
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Gastrointestinal hemorrhage, Bilateral renal hypoplasia, Vesicouretera... ORPHA:508488
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Scoliosis,... OMIM:177850
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis, Scoliosis, Abnormality of the cervical spine OMIM:154400
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonic stenosis ORPHA:139466
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Splenomegaly, Nep... ORPHA:116
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Leprechaunism
Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Hypercalciuria, Enlarged ovaries, Hepa... ORPHA:508
Atelis Syndrome 2
Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis, Kyphosis, Sacral dimple OMIM:620185
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Hyphema ORPHA:790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Horseshoe kidney, Transient ischemic attack, Ischemic stroke, Lumbar h... ORPHA:500150
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Cardiomegaly, Vitreous hemorrhage, Cerebral hemorrhage, Retinal hemorrha... OMIM:620371
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Butterfly vertebrae, Cor... OMIM:308205
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Penoscrotal hypospadias, Micropenis, Tachycardia, Patent urachus, Enlarg... OMIM:618280
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Cardiomyopathy, Right ventricular hypertrophy, Nephroblastoma, Splen... OMIM:312870
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Vi... ORPHA:91500
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Retinal hemorrhage, Ecchymosis ORPHA:88
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Abnormal form of the vertebral bodies, Renal hypopl... ORPHA:3015
Digeorge Syndrome
Unilateral renal agenesis, Renal insufficiency, Splenomegaly, Intervertebral disk degeneration, H... OMIM:188400
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Petechiae, Retinal hemorrhage, Splenomegaly ORPHA:294
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hepatosplenomegaly, Ischemic stroke, Portal hypertension, Thoracolumba... OMIM:619503
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Hematuria, Hematemesis, Melena, Retinal hemorrhage, Back pain ORPHA:319251
Proteus Syndrome
Long penis, Pulmonary embolism, Kyphosis, Abnormal form of the vertebral bodies, Splenomegaly, En... ORPHA:744
Proboscis Lateralis
Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis ORPHA:141099
Pallister-Hall Syndrome
Unilateral renal agenesis, Bilateral renal agenesis, Ectopic kidney, Hemivertebrae, Micropenis, H... ORPHA:672
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Duplication of renal pelvis, H... ORPHA:261552
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Unilateral renal agenesis, Lumbar scoliosis, Short neck, D-2-hydroxyglutaric acidu... ORPHA:99646
Central Retinal Vein Occlusion
Retinal neovascularization, Intraretinal hemorrhage ORPHA:411527
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Hydroureter, Vesicovaginal fistula, Renal ag... OMIM:258040
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arterial hyper... ORPHA:464
Familial Drusen
Macular hemorrhage ORPHA:75376
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Retinoblastoma
Vitreous hemorrhage OMIM:180200
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Incontinentia Pigmenti
Retinal hemorrhage, Hemivertebrae, Kyphoscoliosis OMIM:308300
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis, Left ventricular systoli... 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
Retinal hemorrhage, Ischemic stroke, Corneal neovascularization, 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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