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Spontaneous Allele Detail
Symbol: Cdh23v
Name: cadherin 23 (otocadherin); waltzer
MGI ID: MGI:1856228
Synonyms: v
Gene: Cdh23  Location: Chr10:60302748-60696490 bp, - strand  Genetic Position: Chr10, 30.11 cM
Strain of Origin:  old mutant of the mouse fancy
Allele Type:    Spontaneous
Mutation:    Insertion
Mutation detailsA single G nucleotide insertion at position 889 is predicted to cause a frameshift and premature termination of the encoded protein. (J:69985, J:73941)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Cdh23 Mutation:  61 strains or lines available
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 (Cdh23v/+ Myo7ash1/+) 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).

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

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory