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Targeted Allele Detail
Symbol: Scn1atm1.1Kzy
Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Kazuhiro Yamakawa
MGI ID: MGI:5521534
Synonyms: Scn1aKIdneo, SCN1AR1407X, Scn1aRX, Scn1aRX(-neo)
Gene: Scn1a  Location: Chr2:66101125-66271181 bp, - strand  Genetic Position: Chr2, 39.13 cM
Alliance: Scn1atm1.1Kzy page
Germline Transmission:  Earliest citation of germline transmission: J:121969
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsExon 21 was replaced with a loxP site and a modified exon in which nucleotide substitutions (CGG to TGA) result in the amino acid substitution of a stop codon for arginine, mimicking a mutation found in human severe myoclonic epilepsy in infancy (SMEI) patients. Flp-mediated recombination removed an FRT-flanked neomycin resistance cassette with a 3' loxP site inserted downstream of exon 23 and left the modified exon 21 through exon 23 floxed. 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).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Scn1a Mutation:  75 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:  12 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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last database update
MGI 6.22
The Jackson Laboratory