Scn8a^em2Mm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn8a^em2Mm
• Name: sodium channel, voltage-gated, type VIII, alpha; endonuclease-mediated mutation 2, Miriam Meisler
• MGI ID: MGI:5910126
• Synonyms: Scn8a^Arg1872Trp, Scn8a^cond, Scn8a^R1872W
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^em2Mm page

Mutation origin

• Strain of Origin: (C57BL/6J x SJL/J)F2

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready)
• Mutations: Insertion, Single point mutation
• Mutation details: TALEN-targeting replaced exon 26 with a floxed wild-type exon 26 and a modified exon 26 with the amino acid substitution of arginine to tryptophan at position 1872 (R1872W). (J:295128)

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: 100 strains or lines available

References

• Original: J:295128 Bunton-Stasyshyn RKA, et al., Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. Brain. 2019 Feb 1;142(2):362-375
• All: 7 reference(s)