Scn5atm1Care
Targeted Allele Detail
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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
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Alliance: |
Scn5atm1Care page
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Germline Transmission: |
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: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Humanized sequence, Modified isoform(s)) |
Mutations: |
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Insertion, Nucleotide substitutions
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Scn5a Mutation: |
104 strains or lines available
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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 |
All: |
12 reference(s) |
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