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| Nomenclature |
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Symbol:
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Scn4atm1Ljh
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Name:
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sodium channel, voltage-gated, type IV, alpha;
targeted mutation 1, Lawrence J Hayward
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MGI ID: |
MGI:3763891 |
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Synonyms: |
SCN4aM1592V, Scn4atm1Cann |
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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:125885
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: A floxed neo cassette was inserted downstream of exon 23 and exon 24 was replaced with one that contained a nucleotide substitution that resulted in an amino acid substitution of a valine for a methionine at position 1592 (M1592V). (J:135831)
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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:125885
Lueck JD et al.,
"Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1."
Am J Physiol Cell Physiol 2007 Apr;292(4):C1291-7
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All: |
2 reference(s)
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Analysis Tools
