Scn8a^4J
Chemically induced Allele Detail

Summary

• Symbol: Scn8a^4J
• Name: sodium channel, voltage-gated, type VIII, alpha; 4 Jackson
• MGI ID: MGI:2183462
• Synonyms: neuroscience mutagenesis facility, 2, nmf2, NMF2, Scn8a^nmf2
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^4J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen. A complementation test between nmf2 and Scn8a^nmf5 revealed that nmf2 is a new allele of Scn8a. Sequence analysis demonstrated that an A-to-C transversion mutation occurred in the coding sequence that is predicted to change asparagine 1370 to threonine. This conserved residue is within the S5-S6 pore loop of transmembrane domain 3. (J:90095)
• 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:78134 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2002
• All: 3 reference(s)