|
|
| Nomenclature |
|
Symbol:
|
Scn1atm1Kzy
|
|
Name:
|
sodium channel, voltage-gated, type I, alpha;
targeted mutation 1, Kazuhiro Yamakawa
|
|
MGI ID: |
MGI:3713733 |
|
Synonyms: |
Scn1aRX |
|
Gene:
|
Scn1a
Location:
Chr2:66270781-66440840 bp, - strand
Genetic Position: Chr2,
39.13 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:121969
|
|
Parent Cell Line:
| Not Specified (ES Cell) |
|
Strain of Origin:
|
Not Specified
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Nucleotide substitutions |
| |
|
Mutation details: An R1407X stop codon was introduceded in exon 21 causing a protein truncation. Absence of protein product was confirmed by western blot analysis using C-terminal and N-terminal anti-Nav1.1 antibodies. (J:121969)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
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 |
|
Carrying any Scn1a Mutation:
|
3 strains or lines available |
|
| References |
|
Original: |
J:121969
Ogiwara I et al.,
"Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation."
J Neurosci 2007 May 30;27(22):5903-14
|
|
All: |
1 reference(s)
|
|
Analysis Tools
