Scn8a^9J
Spontaneous Allele Detail

Summary

• Symbol: Scn8a^9J
• Name: sodium channel, voltage-gated, type VIII, alpha; 9 Jackson
• MGI ID: MGI:3838627
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^9J page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: Failed complementation test proved this an allele of Scn8a. A 3 base pair deletion c.5248_5250delATC was identified in the final exon of the gene. This in-frame deletion removes isoleucine codon 1750 in transmembrane segment DIVS6. Deletion of isoleucine 1750 alters the secondary structure of the distal half of the alpha-helix in transmembrane segment DIVS6. Glycosylation of the mutant protein is limited to core glycosylation for a molecular weight of 240 kDa instead of the wild type 260 kDa. (J:230867)
• Inheritance: Recessive

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Scn8a Mutation: 99 strains or lines available

References

• Original: J:220447 Dionne L, et al., The 9 Jackson allele of Scn8a. MGI Direct Data Submission. 2015
• All: 3 reference(s)