Scn1a^tm1.1Dsf
Targeted Allele Detail

Summary

• Symbol: Scn1a^tm1.1Dsf
• Name: sodium channel, voltage-gated, type I, alpha; targeted mutation 1.1, Dravet Syndrome Foundation Spain
• MGI ID: MGI:5615963
• Synonyms: Scn1a^A1783Vfl
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^tm1.1Dsf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:274710
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, No functional change)
• Mutations: Insertion, Single point mutation
• Mutation details: A mini-gene cassette containing a loxP site, coding sequence for wild-type exon 26, bpA, an FRT-flanked neomycin cassette, and a second loxP site was introduced into intron 25 and a A1783V mutation was introduced into exon 26. The mutation results in a C to T change at nucleotide 5348 altering the corresponding amino acid from alanine to valine at position 1783. (J:274710)

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:274710 Kuo FS, et al., Disordered breathing in a mouse model of Dravet syndrome. Elife. 2019 Apr 26;8:e43387
• All: 24 reference(s)