Cdh23^v
Spontaneous Allele Detail

Summary

• Symbol: Cdh23^v
• Name: cadherin related 23 (otocadherin); waltzer
• MGI ID: MGI:1856228
• Synonyms: v
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^v page

Mutation origin

• Strain of Origin: old mutant of the mouse fancy

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: A single G nucleotide insertion at coding nucleotide 834 causes a frameshift and premature termination of the encoded protein. (J:69985, J:73941)
• Inheritance: Recessive

Disease models

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: 3 strains available Cell Lines: 0 lines available
• Carrying any Cdh23 Mutation: 281 strains or lines available

Notes

Viability and breeding ability are somewhat less than normal. Homozygotes show the typical circling, head-tossing, deafness, and hyperactivity of the circling mutants. Most of them are deaf from the beginning. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (Cdh23^v/+ Myo7^ash1/+) are deaf beginning at 3 to 6 months. They have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset (J:13130)(J:15164).

References

• Original: J:30784 Keeler CE, The Laboratory Mouse Its Origin, Heredity, and Culture, in The Laboratory Mouse. Its Origin, Heredity, and Culture. 1931
• All: 17 reference(s)