- bidirectional circling / MGI
- hyperactivity / MGI
- decreased litter size / MGI
- deafness / MGI
- abnormal ear morphology / MGI
- abnormal ear physiology / MGI
- abnormal cochlear outer hair cell morphology / MGI
- abnormal vestibular hair cell stereociliary bundle morphology / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- decreased outer hair cell stereocilia number / MGI
- absent outer hair cell stereocilia / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- head tossing / MGI
- abnormal outer hair cell kinocilium morphology / MGI
- vision/eye phenotype / MGI
STOCK Cdh23v-Alb/WtsiH
Status | Available to order |
EMMA ID | EM:01316 |
International strain name | STOCK Cdh23v-Alb/WtsiH |
Alternative name | v(ALB)) |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Cdh23v-Alb, |
Gene/Transgene symbol | Cdh23 |
Information from provider
Provider | Karen Steel |
Provider affiliation | Wellcome Trust Sanger Institute |
Phenotypic information | This is a hearing impaired, recessive mutant that has a primary defect in the sensory cells of the organ of Corti of the inner ear. Homozygotes exhibit circling behaviour and lack a Preyer reflex. Heterozygotes and wild-types are not distinguishable from each other. |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Usher syndrome type 1 / Orphanet_231169
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
MGI phenotypes (allele matching)
Literature references
- Localization of the bronx waltzer (bv) deafness gene to mouse chromosome 5.;Bussoli T J, Kelly A, Steel K P, ;1997;Mammalian genome : official journal of the International Mammalian Genome Society;8;714-7; 9321462
- Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.;Di Palma F, Holme R H, Bryda E C, Belyantseva I A, Pellegrino R, Kachar B, Steel K P, Noben-Trauth K, ;2001;Nature genetics;27;103-7; 11138008
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