Scn1a^em1Odwd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn1a^em1Odwd
• Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Diane O'Dowd
• MGI ID: MGI:6507747
• Synonyms: Scn1a*K1259T, Scn1a^KT
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^em1Odwd page

Mutation origin

• Strain of Origin: (C57BL/6 x SJL)F2

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A K1259T (nucleotide AAA to ACC) missense mutation that is homologous to the human K1270T mutation was introduced to exon 19 using CRISPR/Cas9 methodologies. A silent EcoRV site mutation used for genotyping was introduced downstream of K1270T, and 2 additional silent insertional mutations flank the K1270T mutation to prevent Cas9 activity on the repaired allele. (J:320991)

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:320991 Das A, et al., Interneuron Dysfunction in a New Mouse Model of SCN1A GEFS. eNeuro. 2021 Mar-Apr;8(2):ENEURO.0394-20.2021
• All: 1 reference(s)