Phenotypes associated with this allele

• Allele Symbol: Cdh23^Ahl+
• Allele Name: wild-type of age related hearing loss
• Allele ID: MGI:2665714
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Cdh23^Ahl+/Cdh23^Ahl+ Tbc1d24^em4Tbf/Tbc1d24^em4Tbf	B6.Cg-Cdh23^Ahl+ Tbc1d24^em4Tbf	MGI:6490586
cx2	Cdh23^Ahl+/Cdh23^Ahl+ Ush2a^tm1Tili/Ush2a^tm1Tili	involves: 129S4/SvJae * C57BL/6 * CAST/EiJ * CBA/CaJ	MGI:3702270
cx3	Cdh23^Ahl+/Cdh23^Ahl+ Tmem135^fun025/Tmem135^fun025	involves: C57BL/6J * CAST/EiJ * CBA/CaJ	MGI:8172415

Genotype
MGI:6490586

cx1

• Allelic Composition: Cdh23^Ahl+/Cdh23^Ahl+; Tbc1d24^em4Tbf/Tbc1d24^em4Tbf
• Genetic Background: B6.Cg-Cdh23^Ahl+ Tbc1d24^em4Tbf

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:299025 )

N • mice exhibit normal hearing, auditory brainstem response thresholds at P30, P60, and P90, wave 1 latencies and amplitudes, and distortion product otoacoustic emissions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	autosomal dominant nonsyndromic deafness 65	DOID:0110586	OMIM:616044	J:299025

Genotype
MGI:3702270

cx2

• Allelic Composition: Cdh23^Ahl+/Cdh23^Ahl+; Ush2a^tm1Tili/Ush2a^tm1Tili
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CAST/EiJ * CBA/CaJ

hearing/vestibular/ear

abnormal distortion product otoacoustic emission ( J:118927 )

• at 4 months of age, mice show normal cochlear function at low frequency but an elevated threshold at higher frequencies; there was no progression when tested at 7 months of age

Genotype
MGI:8172415

cx3

• Allelic Composition: Cdh23^Ahl+/Cdh23^Ahl+; Tmem135^fun025/Tmem135^fun025
• Genetic Background: involves: C57BL/6J * CAST/EiJ * CBA/CaJ

hearing/vestibular/ear

decreased cochlear inner hair cell number ( J:364559 )

• at 13 months of age, N4 male homozygotes show a 23-27 % decrease in IHC survival at 16, 22.6, and 45.2 kHz cochlear regions

• however, no differences in IHC survival are noted at any tested cochlear frequency region at 2 months of age

decreased cochlear outer hair cell number ( J:364559 )

• at 2 months of age, N4 male homozygotes show a 46-66% decrease in OHC survival at 8, 11.3, 16, and 22.6 kHz cochlear regions

• by 13 months of age, a near-total loss of OHCs is noted at 8, 11.3, 16, 22.6, and 32 kHz cochlear regions

thin stria vascularis ( J:364559 )

• at 2 months of age, N4 male homozygotes show a 20-24 % decrease in stria vascularis (SV) thicknesses in the apical and middle cochlear regions

• by 13 months of age, a 29-54 % decrease in SV thicknesses is noted in the apical, middle, and basal cochlear regions, indicating SV atrophy

abnormal auditory brainstem response waveform shape ( J:364559 )

• at 1 month of age, both male and female N4 homozygotes show significantly slower ABR wave I latencies at 64 kHz

• at 3 months of age, N4 female homozygotes show significantly smaller ABR wave I amplitudes at 8 and 32 kHz

• at 12 months of age, both male and female N4 homozygotes show significantly slower ABR wave I latencies at 8, 16, 32, 48, and 64 kHz and smaller ABR wave I amplitudes at 8, 48, and 64 kHz

increased or absent threshold for auditory brainstem response ( J:364559 )

• at 6 months of age, N3 homozygotes (backcrossed onto the CBA/CaJ strain for 3 generations) show an average increase of 19-33 dB in ABR thresholds at 8, 16, 48, and 64 kHz relative to heterozygous littermates

• by 12 months of age, N3 homozygotes show an average increase of 18-38 dB in ABR thresholds at 8, 16, 32, 48, and 64 kHz relative to heterozygous littermates

• at 3 months of age, N4 male homozygotes (backcrossed onto CBA/CaJ for 4 generations) show an average increase of 22-38 dB in ABR thresholds at 8, 16, 48, and 64 kHz while N4 female homozygotes show an average increase of 23-40 dB in ABR thresholds at 8, 16, and 64 kHz

• however, at 1 month of age, both male and female N4 homozygotes show normal ABR thresholds at all tested frequencies, indicating normal hearing

• no sex differences in ABR thresholds are noted at any tested frequencies at 1, 3, or 12 months of age

decreased distortion product otoacoustic emission amplitude ( J:364559 )

• at 4 months of age, both male and female N4 homozygotes show significantly smaller DPOAE amplitudes at 8 and 16 kHz

• no sex differences in DPOAE amplitudes are noted at any tested frequencies

increased or absent distortion product otoacoustic emission threshold ( J:364559 )

• at 4 months of age, N4 male homozygotes show an average increase of 19-29 dB in DPOAE thresholds at 8 and 16 kHz while N4 female homozygotes show an average increase of 23-24 dB in DPOAE thresholds at 8 and 16 kHz

• no sex differences in DPOAE thresholds are noted at any tested frequencies

sensorineural hearing loss ( J:364559 )

• mice exhibit progressive sensorineural hearing loss; both male and female homozygotes show profound hearing loss by 12 months of age

nervous system

decreased cochlear inner hair cell number ( J:364559 )

• at 13 months of age, N4 male homozygotes show a 23-27 % decrease in IHC survival at 16, 22.6, and 45.2 kHz cochlear regions

• however, no differences in IHC survival are noted at any tested cochlear frequency region at 2 months of age

decreased cochlear outer hair cell number ( J:364559 )

• at 2 months of age, N4 male homozygotes show a 46-66% decrease in OHC survival at 8, 11.3, 16, and 22.6 kHz cochlear regions

• by 13 months of age, a near-total loss of OHCs is noted at 8, 11.3, 16, 22.6, and 32 kHz cochlear regions

cochlear ganglion degeneration ( J:364559 )

• at 2 months of age, N4 male homozygotes show a 19% decrease in spiral ganglion neuron (SGN) densities in the middle cochlear region

• by 13 months of age, a 29-48 % decrease in SGN densities is noted in the apical, middle, and basal cochlear regions, indicating progressive SGN degeneration

behavior/neurological

behavior/neurological phenotype ( J:364559 )

N • at 3 months of age, both male and female N4 homozygotes exhibit normal motor coordination and balance function in rotarod tests