Phenotypes Associated with This Genotype

Genotype
MGI:5141009

• Allelic Composition: Cdh23^12J/Cdh23^12J
• Genetic Background: involves: C57BL/6J

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:174758 )

N • normal gait and swimming ability indicating absence of vestibular abnormalities

decreased cochlear inner hair cell number ( J:174758 )

• after 5 months of age

decreased cochlear outer hair cell number ( J:174758 )

• progressive OHC loss beginning around 3 months of age and moves from the cochlear base to the apex

• loss is evident in the midcochlear turns at P100

• treatment with an apoptosis inhibitor reduces OHC loss

abnormal cochlear outer hair cell physiology ( J:174758 )

• expression analysis indicates enhanced apoptosis in OHC

abnormal auditory brainstem response ( J:174758 )

• first detectable with high frequencies at P40

• treatment with an apoptosis inhibitor lowers ABR thresholds

abnormal distortion product otoacoustic emission ( J:174758 )

• lower amplitudes at 7 weeks of age compared to mice homozygous for Cdh23^ahl

• treatment with an apoptosis inhibitor increases amplitudes

absent distortion product otoacoustic emissions ( J:174758 )

• at 22 weeks of age, at all frequencies tested

impaired hearing ( J:174758 )

• develops by P27

deafness ( J:174758 )

• by P90

nervous system

decreased cochlear inner hair cell number ( J:174758 )

• after 5 months of age

decreased cochlear outer hair cell number ( J:174758 )

• progressive OHC loss beginning around 3 months of age and moves from the cochlear base to the apex

• loss is evident in the midcochlear turns at P100

• treatment with an apoptosis inhibitor reduces OHC loss

abnormal cochlear outer hair cell physiology ( J:174758 )

• expression analysis indicates enhanced apoptosis in OHC

behavior/neurological

behavior/neurological phenotype ( J:174758 )

N • normal gait and swimming ability indicating absence of vestibular abnormalities

absent pinna reflex ( J:174758 )

• at 20 weeks of age in response to a 20 kHz 90 dB sound pressure level tone burst

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 12		DOID:0110467	OMIM:601386	J:174758