Phenotypes associated with this allele

• Allele Symbol: Cdh23⁺
• Allele Name: wild type
• Allele ID: MGI:2441122
• Summary: 14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Cdh23^v-2J/Cdh23^+	B6(V)-Cdh23^v-2J/J	MGI:5425626
ht2	Cdh23^v-3J/Cdh23^+	C57BL/6J-Cdh23^v-3J	MGI:3722079
ht3	Cdh23^v/Cdh23^+	involves: BALB/cRl * 47BS/Rl * CBA/Ca	MGI:3789069
ht4	Cdh23^Jera/Cdh23^+	involves: C57BL/6	MGI:5140887
ht5	Cdh23^v-2J/Cdh23^+	mixed	MGI:3715832
ht6	Cdh23^v/Cdh23^+	mixed	MGI:3715831
cx7	Cdh23^v-2J/Cdh23^+ Myo7a^sh1-8J/Myo7a^+	B6.Cg-Myo7a^sh1-8J Cdh23^v-2J	MGI:5425622
cx8	Cdh23^v-2J/Cdh23^+ Espn^je/Espn^+	(B6(V)-Cdh23^v-2J/J x JE/LeJ)F1	MGI:4429960
cx9	Cdh23^v-2J/Cdh23^+ Pcdh15^av-3J/Pcdh15^+	C57BL/6J-Cdh23^v-2J Pcdh15^av-3J	MGI:3717690
cx10	Cdh23^v/Cdh23^+ Myo7a^sh1/Myo7a^+	involves: BALB	MGI:3768136
cx11	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^+	involves: BALB/cRl * 47BS/Rl * CBA/Ca	MGI:3789073
cx12	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^+	mixed	MGI:3715833
cx13	Cdh23^v-2J/Cdh23^+ Myo7a^4626SB/Myo7a^+	mixed	MGI:3715834
cx14	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^4626SB	mixed	MGI:3715829

Genotype
MGI:5425626

ht1

• Allelic Composition: Cdh23^v-2J/Cdh23⁺
• Genetic Background: B6(V)-Cdh23^v-2J/J

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

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• for some frequencies in mice at 8-10 months of age

Genotype
MGI:3722079

ht2

• Allelic Composition: Cdh23^v-3J/Cdh23⁺
• Genetic Background: C57BL/6J-Cdh23^v-3J

behavior/neurological

ataxia ( J:73941 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:73941 )

abnormal vestibular system physiology ( J:73941 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1D		DOID:0110831	OMIM:601067	J:174130

Genotype
MGI:3789069

ht3

• Allelic Composition: Cdh23^v/Cdh23⁺
• Genetic Background: involves: BALB/cRl * 47BS/Rl * CBA/Ca

hearing/vestibular/ear

decreased cochlear inner hair cell number ( J:134369 )

• number is lower in region centered at 14% of total cochlear duct length from base at 11-12 weeks of age

decreased cochlear outer hair cell number ( J:134369 )

• number is lower in region centered at 14% (60 kHz) of total cochlear duct length from base at 11-12 weeks of age

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• compound action potential (CAP) thresholds are significantly raised compared to wild-type mice at low (3, 6, and 9 kHz) and high (18, 24, and 30 kHz) frequencies at 11-12 weeks of age; compound action potential (CAP) thresholds do not differ significantly from those of double heterozygotes at any frequency tested

• interanimal variability of CAP thresholds is much greater than in wild-type mice

• even at 5-6 weeks of age, CAP thresholds are significantly raised at 3, 6, 24, and 30 kHz

increased susceptibility to age-related hearing loss ( J:134369 )

• in mice aged 23-24 weeks, CAP thresholds at 15,18, 24, and 30 kHz are significantly elevated compared to mice aged 5-6 weeks

• no increase in threshold at low frequencies (3 and 6 kHz) is seen between young and old animals

increased susceptibility to noise-induced hearing loss ( J:134369 )

• after 2 hours exposure to noise (8-16 kHz, 103 dB SPL), CAP thresholds are significantly elevated at 12 kHz (frequency at center of bandwidth used) compared to non noise-exposed littermates; threshold shift at 15 kHz is significantly greater than that seen in wild-type controls

• Background Sensitivity: heterozygotes on original (75% CBA/Ca; 25% unknown) background exhibit elevated CAP thresholds at 9, 12, 15, 18, 24, and 30 kHz but not at 3 or 6 kHz at 10-11 weeks of age (similar to exposed wild-type mice) compared to nonexposed littermates; threshold shifts do not significantly differ between wild-type and heterozygtes at any frequency, indicating that susceptibility to noise-induced hearing loss in heterozygotes is background-dependent

impaired hearing ( J:134369 )

• elevated CAP thresholds indicate hearing loss

nervous system

decreased cochlear inner hair cell number ( J:134369 )

• number is lower in region centered at 14% of total cochlear duct length from base at 11-12 weeks of age

decreased cochlear outer hair cell number ( J:134369 )

• number is lower in region centered at 14% (60 kHz) of total cochlear duct length from base at 11-12 weeks of age

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• compound action potential (CAP) thresholds are significantly raised compared to wild-type mice at low (3, 6, and 9 kHz) and high (18, 24, and 30 kHz) frequencies at 11-12 weeks of age; compound action potential (CAP) thresholds do not differ significantly from those of double heterozygotes at any frequency tested

• interanimal variability of CAP thresholds is much greater than in wild-type mice

• even at 5-6 weeks of age, CAP thresholds are significantly raised at 3, 6, 24, and 30 kHz

Genotype
MGI:5140887

ht4

• Allelic Composition: Cdh23^Jera/Cdh23⁺
• Genetic Background: involves: C57BL/6

hearing/vestibular/ear

cochlear outer hair cell degeneration ( J:174130 )

• at 13 weeks of age in the basal cochlear turn, with approximately 50% of OHCs missing in this region

increased or absent threshold for auditory brainstem response ( J:174130 )

• increased threshold at 24 weeks of age

• later onset and milder than in homozygous mice

nervous system

cochlear outer hair cell degeneration ( J:174130 )

• at 13 weeks of age in the basal cochlear turn, with approximately 50% of OHCs missing in this region

Genotype
MGI:3715832

ht5

• Allelic Composition: Cdh23^v-2J/Cdh23⁺
• Genetic Background: mixed

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108877 )

• percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 30% at 3 to 5 month

behavior/neurological

absent pinna reflex ( J:108877 )

• percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 30% at 3 to 5 month

Genotype
MGI:3715831

ht6

• Allelic Composition: Cdh23^v/Cdh23⁺
• Genetic Background: mixed

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108877 )

• percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 35% at 7 to 9 month

behavior/neurological

absent pinna reflex ( J:108877 )

• percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 35% at 7 to 9 month

Genotype
MGI:5425622

cx7

• Allelic Composition: Cdh23^v-2J/Cdh23⁺; Myo7a^sh1-8J/Myo7a⁺
• Genetic Background: B6.Cg-Myo7a^sh1-8J Cdh23^v-2J

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:183898 )

• modest but significant at some frequencies at 5-7 and 8-10 months of age compared to single heterozygotes

Genotype
MGI:4429960

cx8

• Allelic Composition: Cdh23^v-2J/Cdh23⁺; Espn^je/Espn⁺
• Genetic Background: (B6(V)-Cdh23^v-2J/J x JE/LeJ)F1

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:78812 )

N • double heterozygotes do not have hearing impairment as determined by click tests and ABR threshold assessments

Genotype
MGI:3717690

cx9

• Allelic Composition: Cdh23^v-2J/Cdh23⁺; Pcdh15^av-3J/Pcdh15⁺
• Genetic Background: C57BL/6J-Cdh23^v-2J Pcdh15^av-3J

hearing/vestibular/ear

abnormal inner hair cell stereociliary bundle morphology ( J:95655 )

• exhibit a degenerated appearance to a lesser degree than that observed in the outer hair cells

abnormal outer hair cell stereociliary bundle morphology ( J:95655 )

• degenerated outer hair-cell stereocilia

cochlear hair cell degeneration ( J:95655 )

• mid-basal and extreme basal loss of hair cells in baso-apical regions of the cochlea at 6 months of age

• not to affect the supporting cells of the organ of Corti

increased or absent threshold for auditory brainstem response ( J:95655 )

• significantly elevated ABR thresholds

• greatest increase at the highest frequencies tested (16 and 32 kHz)

increased susceptibility to age-related hearing loss ( J:95655 )

• exhibit a progressive and preferential loss of high-frequency hearing with onset at about five months of age

nervous system

abnormal inner hair cell stereociliary bundle morphology ( J:95655 )

• exhibit a degenerated appearance to a lesser degree than that observed in the outer hair cells

abnormal outer hair cell stereociliary bundle morphology ( J:95655 )

• degenerated outer hair-cell stereocilia

cochlear hair cell degeneration ( J:95655 )

• mid-basal and extreme basal loss of hair cells in baso-apical regions of the cochlea at 6 months of age

• not to affect the supporting cells of the organ of Corti

cochlear ganglion degeneration ( J:95655 )

• exhibited loss of spiral ganglion cells in the mid-basal turn and more pronounced in the extreme base at 6 month of age

vision/eye

vision/eye phenotype ( J:95655 )

N • eyes appear clinically normal and no evidence of anatomic defects in retinas

Genotype
MGI:3768136

cx10

• Allelic Composition: Cdh23^v/Cdh23⁺; Myo7a^sh1/Myo7a⁺
• Genetic Background: involves: BALB

hearing/vestibular/ear

deafness ( J:13130 )

• mice lose their hearing at around 10 weeks of age

Genotype
MGI:3789073

cx11

• Allelic Composition: Cdh23^v/Cdh23⁺; Myo7a^4626SB/Myo7a⁺
• Genetic Background: involves: BALB/cRl * 47BS/Rl * CBA/Ca

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:134369 )

N

decreased cochlear outer hair cell number ( J:134369 )

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• after 2 hours exposure to noise, CAP thresholds are not elevated at 12 kHz (frequency at center of bandwidth used) compared to non noise-exposed littermates; Cdh23^sv heterozygotes and Cdh23;Myo7a double heterozygotes show significantly higher CAP threshold shifts compared to wild-type after noise exposure

• thresholds at 30 kHz are raised at in Cdh23 heterozygotes and wild-type, but not in Myo7a heterozygotes or double heterozygotes, although these mice already have significant (35 dB) hearing loss at this frequency

nervous system

decreased cochlear outer hair cell number ( J:134369 )

abnormal outer hair cell stereociliary bundle morphology ( J:134369 )

• stereocilia exhibit damage at 58% region following noise exposure; in noise-exposed animals, gaps in ranks of stereocilia are observed

• splayed stereocilia leaning outward from the bundle so that tips are not in contact with adjacent row are seen; number (percent of total) of splayed cilia per rank is increased >8-fold with noise exposure

decreased outer hair cell stereocilia number ( J:134369 )

• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals

abnormal cochlear nerve compound action potential ( J:134369 )

• after 2 hours exposure to noise, CAP thresholds are not elevated at 12 kHz (frequency at center of bandwidth used) compared to non noise-exposed littermates; Cdh23^sv heterozygotes and Cdh23;Myo7a double heterozygotes show significantly higher CAP threshold shifts compared to wild-type after noise exposure

• thresholds at 30 kHz are raised at in Cdh23 heterozygotes and wild-type, but not in Myo7a heterozygotes or double heterozygotes, although these mice already have significant (35 dB) hearing loss at this frequency

Genotype
MGI:3715833

cx12

• Allelic Composition: Cdh23^v/Cdh23⁺; Myo7a^4626SB/Myo7a⁺
• Genetic Background: mixed

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108877 )

• similar to Cdh23^v heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

behavior/neurological

absent pinna reflex ( J:108877 )

• similar to Cdh23^v heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

Genotype
MGI:3715834

cx13

• Allelic Composition: Cdh23^v-2J/Cdh23⁺; Myo7a^4626SB/Myo7a⁺
• Genetic Background: mixed

hearing/vestibular/ear

increased susceptibility to age-related hearing loss ( J:108877 )

• similar to Cdh23^v-2J heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

behavior/neurological

absent pinna reflex ( J:108877 )

• similar to Cdh23^v-2J heterozygous mice

• although statistically not significant, there was a greater tendency for mice to lose their Preyer reflex if they carried both a Cdh23 and Myo7a mutation

Genotype
MGI:3715829

cx14

• Allelic Composition: Cdh23^v/Cdh23⁺; Myo7a^4626SB/Myo7a^4626SB
• Genetic Background: mixed

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:108877 )

• identical to Myo7a^4626SB/ Myo7a^4626SB

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:108877 )

• identical to Myo7a^4626SB/ Myo7a^4626SB