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Targeted Allele Detail
Symbol: Scn5atm1Care
Name: sodium channel, voltage-gated, type V, alpha; targated mutation 1, Carol Ann Remme
MGI ID: MGI:3769902
Synonyms: Scn5a1798insD
Gene: Scn5a  Location: Chr9:119483410-119579016 bp, - strand  Genetic Position: Chr9, 71.33 cM
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, Inserted expressed sequence)
Mutation:    Insertion
Mutation detailsA 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).
Disease models
In Structures Affected by this Mutation: 2 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 Scn5a Mutation:  55 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:  8 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory