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Targeted Allele Detail
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: Chr10:30832359-30842783 bp, - strand  Genetic Position: Chr10, 17.19 cM, cytoband A4
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 detailsSequence 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: 18 anatomical structures
Find Mice (IMSR)
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:  5 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)

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MGI 6.13
The Jackson Laboratory