Scn8a^em1Wagj
Endonuclease-mediated Allele Detail

Summary

• Symbol: Scn8a^em1Wagj
• Name: sodium channel, voltage-gated, type VIII, alpha; endonuclease-mediated mutation 1, Jacy L Wagnon
• MGI ID: MGI:8329490
• Synonyms: Scn8a^cond
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^em1Wagj page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready, Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology knocked-in a lox-stop-lox cassette upstream of the p.Thr765Ile (ACA to ATC) mutation in exon 14. Residue Thr767 in human corresponds to residue Thr765 in mouse and is a mutation identified in patients with developmental and epilepic encephalopathy. The lox-stop-lox cassette inhibits constitutive expression of the mutant allele. Exposure to cre recombinase restores the expression of the mutant allele. Heterozygotes show a 50% reduction in mRNA expression due to the lox-stop-lox sequence. (J:383178)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:383178 Anne MNK, et al., Distinct neuronal mechanisms for motor impairment and seizures in a novel mouse model of SCN8A epileptic encephalopathy. Neurobiol Dis. 2026 Apr;221:107317
• All: 1 reference(s)