Cachd1^tow
Spontaneous Allele Detail

Summary

• Symbol: Cachd1^tow
• Name: cache domain containing 1; tilt-o-whirl
• MGI ID: MGI:6827187
• Gene: Cachd1 Location: Chr4:100633870-100861741 bp, + strand Genetic Position: Chr4, 45.76 cM
• Alliance: Cachd1^tow page

Mutation origin

• Strain of Origin: B6(Cg)-Bmp5^se-4J/J

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: This spontaneous G to A transition in c.3158 in exon 23 causes a p.C1053Y amino acid substitution in a highly conserved cysteine codon. (J:314293)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

4 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 Cachd1 Mutation: 82 strains or lines available

References

• Original: J:314293 Tian C, et al., CACHD1-deficient mice exhibit hearing and balance deficits associated with a disruption of calcium homeostasis in the inner ear. Hear Res. 2021 Sep 15;409:108327
• All: 1 reference(s)