Cdh23^Jera
Chemically induced Allele Detail

Summary

• Symbol: Cdh23^Jera
• Name: cadherin related 23 (otocadherin); jera
• MGI ID: MGI:5140884
• Synonyms: Cdh23^V2360E
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^Jera page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU induced a T to A missense mutation at nucleotide 7097 resulting in a valine to glutamic acid substitution at amino acid 2360. This mutation falls within a highly conserved calcium binding motif in extracellular domain 22. Immunofluorescence analysis is lost from both inner and outer hair cells by P30 in homozygous mice. (J:174130)
• Inheritance: Semidominant

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cdh23 Mutation: 280 strains or lines available

References

• Original: J:174130 Manji SS, et al., An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice. Am J Pathol. 2011 Aug;179(2):903-14
• All: 1 reference(s)