Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Cdh23v-6J
Name:	cadherin related 23 (otocadherin); waltzer 6 Jackson
MGI ID:	MGI:2154547
Gene:	Cdh23  Location: Chr10:60138527-60532269 bp, - strand  Genetic Position: Chr10, 30.11 cM
Alliance:	Cdh23v-6J page

Strain of Origin:

B10.A-H2h4/(4R)SgDvEgJ

Allele Type:    Spontaneous (Hypomorph, Modified isoform(s)) Mutation:    Single point mutation   Mutation details: A G-to-T transversion at coding nucleotide 904 changes glutamic acid codon 302 to a stop codon (p.E302*). Mutant mice do not express the longest isoform, but do express two shorter isoforms. (J:66698, J:98268, J:174130) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

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 Cdh23 Mutation:	280 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:	6 reference(s)