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| Nomenclature |
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Symbol:
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Scn5atm1Care
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Name:
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sodium channel, voltage-gated, type V, alpha;
targated mutation 1, Carol Ann Remme
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MGI ID: |
MGI:3769902 |
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Synonyms: |
Scn5a1798insD |
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Gene:
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Scn5a
Location:
Chr9:119483410-119579016 bp, - strand
Genetic Position: Chr9,
71.33 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:128657
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Parent Cell Line:
| IB10/E14IB10 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A three base pair (GAT) insertion encoding an in-frame insertion of an aspartic acid at position 1798, 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Scn5a Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
4 reference(s)
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Analysis Tools
