Scn1a^tm1.1Swl
Targeted Allele Detail

Summary

• Symbol: Scn1a^tm1.1Swl
• Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Shu-Wha Lin
• MGI ID: MGI:5699848
• Synonyms: Scn1a^E1099X
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^tm1.1Swl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:221045
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Single point mutation
• Mutation details: A premature stop codon (CAG to TAG) at amino acid residue E1099 (E1099X) was introduced into the linker between domains 2 and 3. The loxP flanked neo cassette downstream of the mutation was removed via cre-mediated recombination. Western blot analysis indicates that global protein expression is reduced to 54.1% in heterozygotes and is undetectable in homozygotes, indicating a null allele. (J:221045)

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:221045 Tsai MS, et al., Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development. Neurobiol Dis. 2015 May;77:35-48
• All: 1 reference(s)