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

Symbol:	Scn5atm1Care
Name:	sodium channel, voltage-gated, type V, alpha; targeted mutation 1, Carol Ann Remme
MGI ID:	MGI:3769902
Synonyms:	Scn5a1798insD
Gene:	Scn5a  Location: Chr9:119312474-119408082 bp, - strand  Genetic Position: Chr9, 71.33 cM
Alliance:	Scn5atm1Care page

Germline Transmission:	Earliest citation of germline transmission: J:128657
Parent Cell Line:	IB10/E14IB10 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Humanized sequence, Modified isoform(s)) Mutations:    Insertion, Nucleotide substitutions   Mutation details: A three base pair (GAT) insertion encoding an in-frame insertion of an aspartic acid at position 1798 (1798insD, the equivalent of 1795insD found in some human heart disease patients), a silent EcoRV site in the 3' untranslated region, and a floxed neo cassette were inserted via homologous recombination. The neo cassette was then removed by Cre-mediated recombination in ES cells. Real time PCR analysis of mRNA from ventricular tissues of heterozygous mice indicates that expression of the mutant allele is equivalent to that of the wild-type allele. (J:128657)

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

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
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 Scn5a Mutation:	104 strains or lines available

Original:	J:128657 Remme CA, et al., Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation. 2006 Dec 12;114(24):2584-94
All:	12 reference(s)