Scn8a^nur14
Chemically induced Allele Detail

Summary

• Symbol: Scn8a^nur14
• Name: sodium channel, voltage-gated, type VIII, alpha; neurological 14
• MGI ID: MGI:2671787
• Synonyms: ataxia3, mnd-2, mnd2, nur^m14Jus, Scn8a^S21P
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^nur14 page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Mutagenesis for Dev. Defects

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. A T-to-C nucleotide substitution at position 61 of the cDNA was identified. This results in a substitution of serine residue 21 by proline in the encoded protein. This residue is located close to the N terminus of the channel, and it is evolutionarily conserved in vertebrate sodium channels and in invertebrate sodium channels. The retention of some hindlimb function in the mutant mice suggests that this is not a null allele, since the null mice in this gene develop complete paralysis of the hindlimbs. (J:146758)
• Inheritance: Recessive

Find Mice (IMSR)

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

References

• Original: J:85113 Kile BT, et al., Functional genetic analysis of mouse chromosome 11. Nature. 2003 Sep 4;425(6953):81-6
• All: 3 reference(s)