Scn8a^5J
Chemically induced Allele Detail

Summary

• Symbol: Scn8a^5J
• Name: sodium channel, voltage-gated, type VIII, alpha; 5 Jackson
• MGI ID: MGI:2183472
• Synonyms: neuroscience mutagenesis facility, 5, nmf5, NMF5, Scn8a^nmf5
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^5J 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 nmf5 and C3HeB/FeJ-Scn8a^med-J revealed that nmf5 is a new allele of Scn8a. Molecular sequence analysis revealed that an A-to-T transversion mutation had occurred that is predicted to change the amino acid isoleucine 1392 to phenylalanine in the encoded protein. 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:

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:78134 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2002
• All: 3 reference(s)