Scn8a^em2Aesc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn8a^em2Aesc
• Name: sodium channel, voltage-gated, type VIII, alpha; endonuclease-mediated mutation 2, Andrew Escayg
• MGI ID: MGI:7470950
• Synonyms: deltaIRL, Scn8a^9delta_IRL
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^em2Aesc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 9 bp in-frame deletion (CATCCGATT) in exon 26 within the voltage sensor of domain 4 which includes removal of the positively charged R1618 residue (p.I1617_L1619del). (J:335369)

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:335369 Wong JC, et al., Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease. Front Pharmacol. 2021;12:748415
• All: 1 reference(s)