Phenotypes Associated with This Genotype

Genotype
MGI:2654804

• Allelic Composition: Cdh23^v-Alb/Cdh23^v-Alb
• Genetic Background: involves: C3H/HeJ * C57BL/6

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

hearing/vestibular/ear

abnormal ear morphology ( J:66698 )

abnormal inner hair cell stereociliary bundle morphology ( J:66698 )

• at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape

• at P4, IHCs remain disorganized

abnormal cochlear outer hair cell morphology ( J:66698 )

• at E18.5, the outer hair cells (OHCs) appear immature

abnormal outer hair cell stereociliary bundle morphology ( J:66698 )

• at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern

abnormal outer hair cell kinocilium location or orientation ( J:66698 )

• at E18.5, the kinocilium is often misplaced from the lateral pole of each cell; the stereocilia, when present, are positioned correctly

absent outer hair cell stereocilia ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

decreased outer hair cell stereocilia number ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

abnormal vestibular hair cell stereociliary bundle morphology ( J:66698 )

• at P4, stereocilia appear thick and are often fused and disorganized

abnormal ear physiology ( J:66698 )

deafness ( J:38058 )

reproductive system

decreased litter size ( J:38058 )

• litter sizes tend to be smaller than controls

behavior/neurological

head tossing ( J:38058 )

hyperactivity ( J:38058 )

bidirectional circling ( J:38058 )

• Background Sensitivity: 74% of deaf homozygous mice exhibited cirling; however, when mice are backcrossed to M. m. castaneus, this frequency drops to 21%

nervous system

abnormal inner hair cell stereociliary bundle morphology ( J:66698 )

• at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape

• at P4, IHCs remain disorganized

abnormal cochlear outer hair cell morphology ( J:66698 )

• at E18.5, the outer hair cells (OHCs) appear immature

abnormal outer hair cell stereociliary bundle morphology ( J:66698 )

• at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern

abnormal outer hair cell kinocilium location or orientation ( J:66698 )

• at E18.5, the kinocilium is often misplaced from the lateral pole of each cell; the stereocilia, when present, are positioned correctly

absent outer hair cell stereocilia ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia

decreased outer hair cell stereocilia number ( J:66698 )

• in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia

abnormal vestibular hair cell stereociliary bundle morphology ( J:66698 )

• at P4, stereocilia appear thick and are often fused and disorganized

cellular

abnormal outer hair cell kinocilium location or orientation ( J:66698 )

• at E18.5, the kinocilium is often misplaced from the lateral pole of each cell; the stereocilia, when present, are positioned correctly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1D		DOID:0110831	OMIM:601067	J:66698