Scn1a^em1Maag
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn1a^em1Maag
• Name: sodium channel, voltage-gated, type I, alpha; endonuclease-mediated mutation 1, Arn M J M van den Maagdenberg
• MGI ID: MGI:8409631
• Synonyms: Scn1a^L263V
• Gene: Scn1a Location: Chr2:66101125-66271181 bp, - strand Genetic Position: Chr2, 39.13 cM
• Alliance: Scn1a^em1Maag page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285436
• Parent Cell Line: JM8 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details:

  Leucine codon 263 (CTC) was changed to valine (GTC) (p.L263V) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with familial hemiplegic migraine type 3 (FHM3). (J:285436)

• Inheritance: Dominant

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: 113 strains or lines available

References

• Original: J:285436 Jansen NA, et al., First FHM3 mouse model shows spontaneous cortical spreading depolarizations. Ann Clin Transl Neurol. 2020 Jan;7(1):132-138
• All: 1 reference(s)