Scn1a^tm1.1Kzy
Targeted Allele Detail

Summary

• Symbol: Scn1a^tm1.1Kzy
• Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Kazuhiro Yamakawa
• MGI ID: MGI:5521534
• Synonyms: Scn1aKI^dneo, SCN1A^R1407X, Scn1a^RX, Scn1a^RX(-neo)
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^tm1.1Kzy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:121969
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 114 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: 15 reference(s)