Scn8a^tm1.1Aesc
Targeted Allele Detail

Summary

• Symbol: Scn8a^tm1.1Aesc
• Name: sodium channel, voltage-gated, type VIII, alpha; targeted mutation 1.1, Andrew Escayg
• MGI ID: MGI:5749693
• Synonyms: Scn8a R1627H, Scn8a^RH
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^tm1.1Aesc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228931
• Parent Cell Line: Pat5 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Single point mutation
• Mutation details: The targeting construct introduced a mutation that results in the amino acid substitution of histidine for arginine at position 1648 (R1648H) and two additional silent substitutions in exon 26. Flp-mediated recombination removed the neomycin resistance cassette. (J:228931)

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 Scn8a Mutation: 101 strains or lines available

References

• Original: J:228931 Makinson CD, et al., An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior. Exp Neurol. 2016 Jan;275 Pt 1:46-58
• All: 1 reference(s)