Scn1a^tm2.1Kzy
Targeted Allele Detail

Summary

• Symbol: Scn1a^tm2.1Kzy
• Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 2.1, Kazuhiro Yamakawa
• MGI ID: MGI:5523787
• Synonyms: Scn1a^fl
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^tm2.1Kzy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:202863
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: LoxP sites were placed on either side of coding exon 7 of Scn1a. An Frt-flanked neomycin selection cassette was also inserted by homologous recombination in ES cells. Germline transmission was established and the neo cassette was subsequently deleted by crossing F1 mice carrying the allele with mice carrying a CAG-FLPe transgene. (J:202863)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Scn1a Mutation: 114 strains or lines available

References

• Original: J:202863 Ogiwara I, et al., Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet. 2013 Dec 1;22(23):4784-804
• All: 2 reference(s)