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| Nomenclature |
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Symbol:
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Scn1atm1Wac
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Name:
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sodium channel, voltage-gated, type I, alpha;
targeted mutation 1, William A Catterall
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MGI ID: |
MGI:3665322 |
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Synonyms: |
Nav1.1(-), Scn1a- |
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Gene:
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Scn1a
Location:
Chr2:66270781-66440840 bp, - strand
Genetic Position: Chr2,
39.13 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:113149
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin resistance gene replaced the last coding exon. This exon encodes domain IV downstream of the S3 segment and the cytoplasmic tail. Immunoblot failed to detect protein in mutant brain samples. (J:113149)
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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 Scn1a Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:113149
Yu FH et al.,
"Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy."
Nat Neurosci 2006 Sep;9(9):1142-9
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All: |
8 reference(s)
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Analysis Tools
