Cdh23^v-2J
Spontaneous Allele Detail

Summary

• Symbol: Cdh23^v-2J
• Name: cadherin related 23 (otocadherin); waltzer 2 Jackson
• MGI ID: MGI:2154548
• Synonyms: Cdh23^v-2J
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^v-2J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

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: 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: 23 reference(s)