Phenotypes Associated with This Genotype

Genotype
MGI:4950051

• Allelic Composition: Cdh23^tm1.1Ugds/Cdh23^tm1.1Ugds; Myo15a^{tm1.1(cre)Ugds}/Myo15a⁺
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J

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

hearing/vestibular/ear

abnormal cochlear hair bundle tip links morphology ( J:171218 )

• decrease in the number of tip links detected that parallels the decrease in stereocilia length

abnormal inner hair cell stereociliary bundle morphology ( J:171218 )

• loss of the prolate shape of stereocilia tips within the medium row

short inner hair cell stereocilia ( J:171218 )

• progressive reduction in stereocilia length with age

decreased inner hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the middle and small rows

abnormal outer hair cell stereociliary bundle morphology ( J:171218 )

short outer hair cell stereocilia ( J:171218 )

• at P16 bundles are cohesive but some stereocilia of the small row display reduced heights

• at P22 the stereocilia in the small and middle row are dramatically shorter with loss of some stereocilia in the small row

• however, at P22 the length of the stereocilia in the tall row is not different from controls

decreased outer hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the small row

abnormal hearing electrophysiology ( J:171218 )

absent cochlear microphonics ( J:171218 )

• at P22

increased or absent threshold for auditory brainstem response ( J:171218 )

• progressive increase in ABR threshold from P16 to P22

absent distortion product otoacoustic emissions ( J:171218 )

• at P22

impaired hearing ( J:171218 )

• progressive hearing loss from P16 to P22 with a profound hearing impairment by P22

nervous system

abnormal cochlear hair bundle tip links morphology ( J:171218 )

• decrease in the number of tip links detected that parallels the decrease in stereocilia length

abnormal inner hair cell stereociliary bundle morphology ( J:171218 )

• loss of the prolate shape of stereocilia tips within the medium row

short inner hair cell stereocilia ( J:171218 )

• progressive reduction in stereocilia length with age

decreased inner hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the middle and small rows

abnormal outer hair cell stereociliary bundle morphology ( J:171218 )

short outer hair cell stereocilia ( J:171218 )

• at P16 bundles are cohesive but some stereocilia of the small row display reduced heights

• at P22 the stereocilia in the small and middle row are dramatically shorter with loss of some stereocilia in the small row

• however, at P22 the length of the stereocilia in the tall row is not different from controls

decreased outer hair cell stereocilia number ( J:171218 )

• by P22 some stereocilia have disappeared from the small row

absent cochlear microphonics ( J:171218 )

• at P22