Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Hey2tm1Mtc Name: hairy/enhancer-of-split related with YRPW motif 2; targeted mutation 1, Michael T Chin MGI ID: MGI:2447620 Synonyms: CHF1- Gene: Hey2  Location: Chr10:30708355-30718779 bp, - strand  Genetic Position: Chr10, 17.19 cM, cytoband A4 Alliance: Hey2tm1Mtc page

Hey2tm1Mtc/Hey2tm1Mtc mice have ventricular septal defects Show the 2 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:80681
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Sequence encompassing 551 nt of the proximal promoter and exon 1 through the majority of exon 3 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded 75 residues composing the amino terminal, basic region, and most of the helix-loop-helix domain. Transcript was undetected by RT-PCR analysis of cardiac ventricles obtained from homozygous mutant embryos. (J:80681)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	25 assay results
In Structures Affected by this Mutation:	19 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hey2 Mutation:	30 strains or lines available

Original:	J:80681 Sakata Y, et al., Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2. Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16197-202
All:	8 reference(s)