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| Nomenclature |
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Symbol:
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Scn1btm1.1Bion
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Name:
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sodium channel, voltage-gated, type I, beta;
targeted mutation 1.1, Bionomics Limited
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MGI ID: |
MGI:4829975 |
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Synonyms: |
beta1C121W |
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Gene:
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Scn1b
Location:
Chr7:31116525-31126945 bp, - strand
Genetic Position: Chr7,
19.3 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:163771
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Exon 3 was replaced with one in which a C to G transversion (C387G) results in the amino acid substitution of tryptophan for cysteine at position 121 (C121W). A loxP was inserted upstream of the modified exon 3. A floxed neo cassette inserted downstream of the modified exon was removed by cre mediated recombination. The modified exon 3 remains floxed. (J:163771)
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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 Scn1b Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:163771
Wimmer VC et al.,
"Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus."
J Clin Invest 2010 Aug 2;120(8):2661-71
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All: |
1 reference(s)
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Analysis Tools
