Mouse Genome Informatics
hm1
    Cdh23v-bus/Cdh23v-bus
involves: KYF/MsIdr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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)
• fused and/or very large stereocilia (J:39748)
• apical cytoplasmic herniation, or blebs (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
OMIM IDRef(s)
Usher Syndrome, Type ID; USH1D 601067 J:174130


Mouse Genome Informatics
hm2
    Cdh23v-bus/Cdh23v-bus
KYF/MsIdr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• hyperactivity interferes with care of offspring (J:12975)