Scn8a^Clth
Chemically induced Allele Detail

Summary

• Symbol: Scn8a^Clth
• Name: sodium channel, voltage-gated, type VIII, alpha; cloth-ears
• MGI ID: MGI:3827095
• Synonyms: GENA399
• Gene: Scn8a Location: Chr15:100767739-100943819 bp, + strand Genetic Position: Chr15, 56.39 cM, cytoband F1
• Alliance: Scn8a^Clth page

Mutation origin

• Strain of Origin: BALB/cAnN
• Project Collection: Harwell ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation was identified in a hearing screen of C3H/HeH-backcross progeny of an ENU mutagenized (BALB/cAnN x C3H/HeH)F1 mouse and was shown by microsatellite analysis to reside on the BALB/cAnN chromosome. It has been identified as an adenine to thymine transversion at nucleotide position 2942, in exon 17, that results in replacement by valine of a highly conserved aspartic acid at amino acid position 981 (D981V), six amino acids carboxy-terminal of the sixth transmembrane segment of the second domain (D2S6). (J:155726)
• Inheritance: Semidominant

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

References

• Original: J:155726 Mackenzie FE, et al., Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss. Genes Brain Behav. 2009 Oct;8(7):699-713
• All: 3 reference(s)