vsd Gene Detail

Summary

• Symbol
  vsd
• Name
  ventricular septal defect
• Synonyms
  hlb546

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:3522251
• Alliance
  gene page

Location &
Maps

• Sequence Map
  Chr4:39452126-56769494 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 4, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  2 with vsd mouse models

Human Disease

Mouse Models

clubfoot

IDs

clubfoot      

DOID:11836
DOID:0001874
ICD10CM:Q66.89
ICD9CM:754.51
MESH:D003025
NCI:C84641
OMIM:119800
UMLS_CUI:C0009081

View 1 model

Mouse Models

Human Disease Modeled: clubfoot

Allelic Composition	Genetic Background	Reference	Phenotypes
vsd/vsd	C57BL/6J-vsd	J:94456	View

Holt-Oram syndrome

IDs

Holt-Oram syndrome      

DOID:0060468
ICD10CM:Q87.2
MESH:C535326
NCI:C125592
OMIM:142900
ORDO:392
UMLS_CUI:C0265264

View 2 models

Mouse Models

Human Disease Modeled: Holt-Oram syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
vsd/vsd	C57BL/6J-vsd	J:94456	View
vsd/vsd+	C57BL/6J-vsd	J:94456	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  12 phenotypes from 1 allele in 1 genetic background
  1 phenotype reference
  

• All Mutations and Alleles
  1
• Chemically induced (ENU)
  1
• Find Mice (IMSR)
  0 strains or lines available

This ENU-induced mutation results in congenital cardiovascular anomalies in both heterozygotes and homozygotes. Homozygotes also exhibit oliogdactyly and clubfoot.

References

• Summaries
  All 2

  Diseases 1

  Phenotypes 1
• Earliest
  J:94456 Yu Q, et al., ENU induced mutations causing congenital cardiovascular anomalies. Development. 2004 Dec;131(24):6211-23