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

Symbol:	Mef2atm1Eno
Name:	myocyte enhancer factor 2A; targeted mutation 1, Eric N Olson
MGI ID:	MGI:2429769
Synonyms:	Mef2a-
Gene:	Mef2a  Location: Chr7:66880911-67022606 bp, - strand  Genetic Position: Chr7, 36.72 cM
Alliance:	Mef2atm1Eno page

Germline Transmission:	Earliest citation of germline transmission: J:79973
Parent Cell Line:	KG-1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: The second coding exon was replaced with a neomycin selection cassette. RT-PCR confirmed the absence of normal transcript. While no normal protein was detected, a truncated protein was identified by Western blot analysis of homozygous mutant heart tissue. The mutant protein was translated from an aberrantly spliced mRNA in which exon 1 joined sequence downstream of neo. Gel mobility shift assays indicated an of ablation of endogenous DNA binding activity in homozygous mutant mice. (J:79973)

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

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	2 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 Mef2a Mutation:	36 strains or lines available

Original:	J:79973 Naya FJ, et al., Mitochondrial deficiency and cardiac sudden death in mice lacking the MEF2A transcription factor. Nat Med. 2002 Nov;8(11):1303-9
All:	8 reference(s)