Scn8a^8J
Chemically induced Allele Detail

Summary

• Symbol: Scn8a^8J
• Name: sodium channel, voltage-gated, type VIII, alpha; 8 Jackson
• MGI ID: MGI:3806790
• Synonyms: Scn8a^V929F, V929F
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^8J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a G to T transition at position 2785 that results in the amino acid substitution of phenylalanine for valine at position 929 (V929F). This substitution occurs in the pore region of the protein. (J:147199)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Scn8a Mutation: 99 strains or lines available

References

• Original: J:147199 Papale LA, et al., Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Hum Mol Genet. 2009 May 1;18(9):1633-41
• All: 4 reference(s)