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

Symbol:	Cdh2312J
Name:	cadherin related 23 (otocadherin); 12 Jackson
MGI ID:	MGI:4453135
Synonyms:	Cdh23erl, Cdh23nmf308, erl, erlong, NMF308
Gene:	Cdh23  Location: Chr10:60138527-60532269 bp, - strand  Genetic Position: Chr10, 30.11 cM
Alliance:	Cdh2312J page

Strain of Origin:

C57BL/6J

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: This ENU-induced mutation is a T to C transition at coding nucleotide 208, which is base pair 63 in exon 3, that results in replacement of serine by proline at amino acid position 70 (p.S70P). (J:174758, J:183808) Inheritance:    Recessive

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	280 strains or lines available

Original:	J:174758 Han F, et al., A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. Pharmacogenomics J. 2012 Feb;12(1):30-44
All:	6 reference(s)