Scn1a^tm1Wac
Targeted Allele Detail

Summary

• Symbol: Scn1a^tm1Wac
• Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1, William A Catterall
• MGI ID: MGI:3665322
• Synonyms: Nav1.1(-), Scn1a^-
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^tm1Wac page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:113149
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance gene replaced the last coding exon. This exon encodes domain IV downstream of the S3 segment and the cytoplasmic tail. Immunoblot failed to detect protein in mutant brain samples. (J:113149)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 114 strains or lines available

References

• Original: J:113149 Yu FH, et al., Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci. 2006 Sep;9(9):1142-9
• All: 22 reference(s)