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| Nomenclature |
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Symbol:
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Scn4atm1.1Cann
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Name:
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sodium channel, voltage-gated, type IV, alpha;
targeted mutation 1.1, Stephen C Cannon
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MGI ID: |
MGI:5301528 |
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Synonyms: |
R669Hm, SCN4AR669H |
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Gene:
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Scn4a
Location:
Chr11:106318592-106353288 bp, - strand
Genetic Position: Chr11,
68.91 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:178228
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Exon 13 was replaced with an FRT-flanked neo cassette and a floxed exon 13 in which nucleotide substitutions (CGT to CAC) resulted in the amino acid substitution of histidine for arginine at position 669 (R669H). Two additional silent polymorphisms were inserted at codon 661 (GTG to GTA) and 662 (CTC to CTG). Flp-mediated recombination removed the neo cassette. (J:178228)
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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 Scn4a Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:178228
Wu F et al.,
"A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis."
J Clin Invest 2011 Oct 3;121(10):4082-94
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All: |
1 reference(s)
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Analysis Tools
