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Spontaneous Allele Detail
Symbol: Cdh23v-2J
Name: cadherin related 23 (otocadherin); waltzer 2 Jackson
MGI ID: MGI:2154548
Synonyms: Cdh23v-2J
Gene: Cdh23  Location: Chr10:60138527-60532269 bp, - strand  Genetic Position: Chr10, 30.11 cM
Alliance: Cdh23v-2J page
Strain of Origin:  C57BL/6J
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Single point mutation
Mutation detailsA G-to-A transition at the first nucleotide of intron 32 alters the wild-type donor splice site. RT-PCR analysis demonstrated that multiple aberrant transcripts were produced from this allele which introduce premature stop codons. However, a small amount of normally processed transcripts (about 4% of total) are expressed. (J:66698)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 2 assay results
In Structures Affected by this Mutation: 4 anatomical structures
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 Cdh23 Mutation:  196 strains or lines available
Original:  J:66698 Di Palma F, et al., Mutations in cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for usher syndrome type 1D. Nat Genet. 2001 Jan;27(1):103-7
All:  22 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory