avc2 Gene Detail

Summary

• Symbol
  avc2
• Name
  atrioventricular canal 2

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:4821838
• Alliance
  gene page

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 15, Syntenic
• Mapping Data
  1 experiment

Human Diseases

• Diseases
  1 with avc2 mouse models

Human Disease

Mouse Models

atrial heart septal defect 1

IDs

atrial heart septal defect 1      

DOID:0110106
ICD10CM:Q21.1
OMIM:108800

View 1 model

Mouse Models

Human Disease Modeled: atrial heart septal defect 1

Allelic Composition	Genetic Background	Reference	Phenotypes
avc2/avc2	involves: C57BL/6J * FVB/N	J:163196	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
  3 phenotypes from 1 allele in 1 genetic background
  2 phenotype references
  

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

Mice homozygous for an ENU-induced allele exhibit perinatal lethality associated with atrioventricular septal defects and preaxial polydactyly.

References

• Summaries
  All 2

  Diseases 1

  Phenotypes 2
• Earliest
  J:163196 Kamp A, et al., Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet. 2010 Aug 15;19(16):3105-13
• Latest
  J:237132 Burnicka-Turek O, et al., Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet. 2016 Jul 15;25(14):3011-3028