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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdh23v-bus
bustling waltzer
MGI:1856681
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdh23v-bus/Cdh23v-bus involves: KYF/MsIdr MGI:5140950
hm2
Cdh23v-bus/Cdh23v-bus KYF/MsIdr MGI:5009690


Genotype
MGI:5140950
hm1
Allelic
Composition
Cdh23v-bus/Cdh23v-bus
Genetic
Background
involves: KYF/MsIdr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v-bus mutation (1 available); any Cdh23 mutation (134 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• there is no response at any age

hearing/vestibular/ear
• base-to-apex gradient severity of degeneration
• the first sign of degeneration is seen at 3 weeks of age in the outer hair cells of the basal turn of the cochlear
• TEM analyses of both the crista ampullaris and the macula showed hair deformities from E17 on
• abnormal patterns of kinocilium-stereocilia
• age-dependent degeneration
• SEM analysis revealed stereociliary derangements of both inner and outer hair cells by 10 days of age (J:34019)
• apical cytoplasmic herniation, or blebs (J:39748)
• fused and/or very large stereocilia (J:39748)
• no normal stereocilia arrays are seen from 10 days to 6 months of age
• no normal stereocilia arrays are seen from 10 days to 6 months of age

nervous system
• SEM analysis revealed stereociliary derangements of both inner and outer hair cells by 10 days of age (J:34019)
• apical cytoplasmic herniation, or blebs (J:39748)
• fused and/or very large stereocilia (J:39748)
• no normal stereocilia arrays are seen from 10 days to 6 months of age
• no normal stereocilia arrays are seen from 10 days to 6 months of age
• slow degeneration of spiral ganglion cells after 3 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Usher syndrome type 1D DOID:0110831 OMIM:601067
J:174130




Genotype
MGI:5009690
hm2
Allelic
Composition
Cdh23v-bus/Cdh23v-bus
Genetic
Background
KYF/MsIdr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v-bus mutation (1 available); any Cdh23 mutation (134 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• hyperactivity interferes with care of offspring





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory