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Allele : Cdh23<v-6J> cadherin related 23 (otocadherin); waltzer 6 Jackson

Primary Identifier	MGI:2154547	Allele Type	Spontaneous
Attribute String	Hypomorph, Modified isoform(s)	Gene	Cdh23
Inheritance Mode	Recessive	Strain of Origin	B10.A-H2<h4>/(4R)SgDvEgJ
Is Recombinase	false	Is Wild Type	false

molecularNote

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.

mutations:
Single point mutation

earliestPublication:
Di Palma F, et al. (2001) Mutations in cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for usher syndrome type 1D. Nat Genet 27(1):103-7

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

1 Carried By

0 Driven By

8 Publication categories

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