Phenotypes associated with this allele

• Allele Symbol: Cdh23^v
• Allele Name: waltzer
• Allele ID: MGI:1856228
• Summary: 13 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cdh23^v/Cdh23^v	involves: CBA/Ca	MGI:3714998
hm2	Cdh23^v/Cdh23^v	involves: fancier's stocks	MGI:3778632
hm3	Cdh23^v/Cdh23^v	mixed	MGI:3768135
hm4	Cdh23^v/Cdh23^v	V/LeJ	MGI:3795696
ht5	Cdh23^v/Cdh23^+	involves: BALB/cRl * 47BS/Rl * CBA/Ca	MGI:3789069
ht6	Cdh23^v/Cdh23^+	mixed	MGI:3715831
cx7	Cdh23^v/Cdh23^v Myo7a^4626SB/Myo7a^4626SB	involves: 47BS/Rl * CBA/Ca	MGI:3715003
cx8	Cdh23^v/Cdh23^+ Myo7a^sh1/Myo7a^+	involves: BALB	MGI:3768136
cx9	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^+	involves: BALB/cRl * 47BS/Rl * CBA/Ca	MGI:3789073
cx10	Cdh23^v/Cdh23^v Myo7a^4626SB/Myo7a^+	mixed	MGI:3715828
cx11	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^4626SB	mixed	MGI:3715829
cx12	Cdh23^v/Cdh23^v Myo7a^4626SB/Myo7a^4626SB	mixed	MGI:3715830
cx13	Cdh23^v/Cdh23^+ Myo7a^4626SB/Myo7a^+	mixed	MGI:3715833

Genotype
MGI:3714998

hm1

• Allelic Composition: Cdh23^v/Cdh23^v
• Genetic Background: involves: CBA/Ca

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

vision/eye

vision/eye phenotype ( J:109546 )

N • no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected

abnormal eye electrophysiology ( J:109546 )

• at 100-130 days of age, electroretinography analysis showed that a-waves have reduced amplitudes and faster implicit times; the b-wave is attenuated, but the implicit time is not significantly faster

hearing/vestibular/ear

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

• disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)

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

• homozygotes projected fewer recognizable stereocilia at E18.5

• arranged in irregular clumps rather than in normal "V"-shape at P4

• stereocilia remain disorganized at P20

nervous system

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

• disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)

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

• homozygotes projected fewer recognizable stereocilia at E18.5

• arranged in irregular clumps rather than in normal "V"-shape at P4

• stereocilia remain disorganized at P20

Genotype
MGI:3778632

hm2

• Allelic Composition: Cdh23^v/Cdh23^v
• Genetic Background: involves: fancier's stocks

behavior/neurological

abnormal response to novelty ( J:133042 )

• decrease in the frequency of digging, wall gnawing, forepaw vibrations, wall leans, hair fluffing, and sniffing at wire mesh in males

• increase in the frequency of sniffing at the peat dust in males

• no food carrying is seen in males

decreased grooming behavior ( J:133042 )

• reduced frequency of grooming in males

tremors ( J:133042 )

abnormal stationary movement ( J:133042 )

• decrease in the frequency of single forepaw lifts in males

head shaking ( J:133042 )

abnormal locomotor behavior ( J:133042 )

• no wire mesh climbing is seen in males

abnormal gait ( J:133042 )

• waddling gait

decreased vertical activity ( J:133042 )

• no rearing behavior is seen in males

circling ( J:133042 )

digestive/alimentary system

abnormal defecation ( J:133042 )

• reduced frequency

hearing/vestibular/ear

deafness ( J:133042 )

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

Genotype
MGI:3768135

hm3

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

behavior/neurological

impaired swimming ( J:13130 )

• adults are unable to swim

hearing/vestibular/ear

cochlear hair cell degeneration ( J:13130 )

• at 2 weeks of age

vestibular saccular macula degeneration ( J:13130 )

• at 13 days

nervous system

cochlear hair cell degeneration ( J:13130 )

• at 2 weeks of age

cochlear ganglion degeneration ( J:13130 )

• at 4 weeks

Genotype
MGI:3795696

hm4

• Allelic Composition: Cdh23^v/Cdh23^v
• Genetic Background: V/LeJ

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:29151 )

N • no aberrant bleeding time after tail vein nick

Genotype
MGI:3789069

ht5

• 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: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:3715003

cx7

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

vision/eye

vision/eye phenotype ( J:109546 )

N • no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected

abnormal eye electrophysiology ( J:109546 )

• at 100-130 days of age, electroretinography analysis shows that double homozygous mice exhibit an attenuation of a- and b-wave amplitudes; however, this attenuation is not significantly different from the single homozygous mutant

Genotype
MGI:3768136

cx8

• 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

cx9

• 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:3715828

cx10

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

hearing/vestibular/ear

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

• identical to Cdh23^v/Cdh23^v

nervous system

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

• identical to Cdh23^v/Cdh23^v

Genotype
MGI:3715829

cx11

• 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

Genotype
MGI:3715830

cx12

• Allelic Composition: Cdh23^v/Cdh23^v; 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

Genotype
MGI:3715833

cx13

• 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