Cdh23^v-6J
Spontaneous Allele Detail

Summary

• Symbol: Cdh23^v-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: Cdh23^v-6J page

Mutation origin

• Strain of Origin: B10.A-H2^h4/(4R)SgDvEgJ

Mutation description

• 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

Disease models

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: 281 strains or lines available

References

• 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)