Atcay^swd
Spontaneous Allele Detail

Summary

• Symbol: Atcay^swd
• Name: ataxia, cerebellar, Cayman type; sidewinder
• MGI ID: MGI:2679221
• Synonyms: swd
• Gene: Atcay Location: Chr10:81040342-81066667 bp, - strand Genetic Position: Chr10, 39.72 cM
• Alliance: Atcay^swd page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The mutation in the sidewinder allele has been identified as a 2 bp deletion in exon 5 that results in a truncated protein of only 181 endogenous amino acids plus 19 missense residues. (J:85793)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:

2 assay results

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 Atcay Mutation: 27 strains or lines available

Notes

The sidewinder mutation is described as exhibiting a similar phenotype as the jittery mutation.

References

• Original: J:85793 Bomar JM, et al., Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. (Erratum). Nat Genet. 2003 Nov;35(3):264-9
• All: 2 reference(s)