Scn8a^med
Spontaneous Allele Detail

Summary

• Symbol: Scn8a^med
• Name: sodium channel, voltage-gated, type VIII, alpha; motor end plate disease
• MGI ID: MGI:1856078
• Synonyms: med
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^med page

Mutation origin

• Strain of Origin: PCT

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Insertion
• Mutation details: The mutation was identified as a small LINE element insertion into exon 2 of the Scn8a gene. This results in exon skipping which is influenced by the AT-AC splice sites in intron 2, and generates a very short inactive protein. This allele is a predicted null. (J:34154)
• Inheritance: Recessive

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

References

• Original: J:28679 Searle AG, Provisional 'seal' (med). Mouse News Lett. 1962;27:34-5
• All: 43 reference(s)