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Targeted Allele Detail
Symbol: Scn1atm1Kzy
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1, Kazuhiro Yamakawa
MGI ID: MGI:3713733
Synonyms: Scn1aRX
Gene: Scn1a  Location: Chr2:66270781-66440837 bp, - strand  Genetic Position: Chr2, 39.13 cM
Germline Transmission:  Earliest citation of germline transmission: J:121969
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsExon 21 was replaced with a loxP site and a modified on in which nucleotide substitutions (CGG to TGA) results in the amino acid substitution of a stop codon for arginine. Absence of protein product was confirmed by western blot analysis using C-terminal and N-terminal anti-Nav1.1 antibodies. (J:121969)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 2 anatomical structures
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:  72 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.14
The Jackson Laboratory