Phenotypes Associated with This Genotype

Genotype
MGI:5140950

• Allelic Composition: Cdh23^v-bus/Cdh23^v-bus
• Genetic Background: involves: KYF/MsIdr

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal startle reflex ( J:34019 )

absent startle reflex ( J:34019 )

• there is no response at any age

head tilt ( J:57150 )

head tossing ( J:57150 )

hyperactivity ( J:12975 )

circling ( J:57150 )

abnormal maternal nurturing ( J:12975 )

♀ • hyperactivity interferes with care of offspring

hearing/vestibular/ear

abnormal cochlea morphology ( J:34019 )

• 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

abnormal cochlear sensory epithelium morphology ( J:39748 )

• TEM analyses of both the crista ampullaris and the macula showed hair deformities from E17 on

• abnormal patterns of kinocilium-stereocilia

abnormal organ of Corti morphology ( J:34019 )

• age-dependent degeneration

abnormal cochlear hair cell morphology ( J:34019 , J:174759 )

• SEM analysis revealed stereociliary derangements of both inner and outer hair cells by 10 days of age (J:34019)

decreased cochlear hair cell number ( J:39748 )

abnormal inner hair cell stereociliary bundle morphology ( J:34019 )

abnormal orientation of inner hair cell stereociliary bundles ( J:34019 )

• no normal stereocilia arrays are seen from 10 days to 6 months of age

abnormal outer hair cell stereociliary bundle morphology ( J:34019 )

abnormal orientation of outer hair cell stereociliary bundles ( J:34019 )

• no normal stereocilia arrays are seen from 10 days to 6 months of age

nervous system

abnormal cochlear hair cell morphology ( J:34019 , J:174759 )

• SEM analysis revealed stereociliary derangements of both inner and outer hair cells by 10 days of age (J:34019)

decreased cochlear hair cell number ( J:39748 )

abnormal inner hair cell stereociliary bundle morphology ( J:34019 )

abnormal orientation of inner hair cell stereociliary bundles ( J:34019 )

• no normal stereocilia arrays are seen from 10 days to 6 months of age

abnormal outer hair cell stereociliary bundle morphology ( J:34019 )

abnormal orientation of outer hair cell stereociliary bundles ( J:34019 )

• no normal stereocilia arrays are seen from 10 days to 6 months of age

abnormal cochlear ganglion morphology ( J:34019 )

• 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