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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdh23v
waltzer
MGI:1856228
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdh23v/Cdh23v involves: CBA/Ca MGI:3714998
hm2
Cdh23v/Cdh23v involves: fancier's stocks MGI:3778632
hm3
Cdh23v/Cdh23v mixed MGI:3768135
hm4
Cdh23v/Cdh23v V/LeJ MGI:3795696
ht5
Cdh23v/Cdh23+ involves: BALB/cRl * 47BS/Rl * CBA/Ca MGI:3789069
ht6
Cdh23v/Cdh23+ mixed MGI:3715831
cx7
Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB
involves: 47BS/Rl * CBA/Ca MGI:3715003
cx8
Cdh23v/Cdh23+
Myo7ash1/Myo7a+
involves: BALB MGI:3768136
cx9
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
involves: BALB/cRl * 47BS/Rl * CBA/Ca MGI:3789073
cx10
Cdh23v/Cdh23v
Myo7a4626SB/Myo7a+
mixed MGI:3715828
cx11
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a4626SB
mixed MGI:3715829
cx12
Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB
mixed MGI:3715830
cx13
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
mixed MGI:3715833


Genotype
MGI:3714998
hm1
Allelic
Composition
Cdh23v/Cdh23v
Genetic
Background
involves: CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected
• 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
• disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)
• 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
• disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)
• 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
Cdh23v/Cdh23v
Genetic
Background
involves: fancier's stocks
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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
• reduced frequency of grooming in males
• decrease in the frequency of single forepaw lifts in males
• no wire mesh climbing is seen in males
• waddling gait
• no rearing behavior is seen in males

digestive/alimentary system
• reduced frequency

hearing/vestibular/ear

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
Cdh23v/Cdh23v
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• adults are unable to swim

hearing/vestibular/ear
• at 2 weeks of age

nervous system
• at 2 weeks of age




Genotype
MGI:3795696
hm4
Allelic
Composition
Cdh23v/Cdh23v
Genetic
Background
V/LeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• no aberrant bleeding time after tail vein nick




Genotype
MGI:3789069
ht5
Allelic
Composition
Cdh23v/Cdh23+
Genetic
Background
involves: BALB/cRl * 47BS/Rl * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• number is lower in region centered at 14% of total cochlear duct length from base at 11-12 weeks of age
• number is lower in region centered at 14% (60 kHz) of total cochlear duct length from base at 11-12 weeks of age
• 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
• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
• 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
• 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
• 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
• elevated CAP thresholds indicate hearing loss

nervous system
• number is lower in region centered at 14% of total cochlear duct length from base at 11-12 weeks of age
• number is lower in region centered at 14% (60 kHz) of total cochlear duct length from base at 11-12 weeks of age
• 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
• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
• 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
Cdh23v/Cdh23+
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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
• 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
Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB
Genetic
Background
involves: 47BS/Rl * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected
• 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
Cdh23v/Cdh23+
Myo7ash1/Myo7a+
Genetic
Background
involves: BALB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
Myo7ash1 mutation (2 available); any Myo7a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• mice lose their hearing at around 10 weeks of age




Genotype
MGI:3789073
cx9
Allelic
Composition
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
Genetic
Background
involves: BALB/cRl * 47BS/Rl * CBA/Ca
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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
• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
• 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; Cdh23sv 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
• 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
• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
• 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; Cdh23sv 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
Cdh23v/Cdh23v
Myo7a4626SB/Myo7a+
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear

nervous system




Genotype
MGI:3715829
cx11
Allelic
Composition
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a4626SB
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• identical to Myo7a4626SB/ Myo7a4626SB

nervous system
• identical to Myo7a4626SB/ Myo7a4626SB




Genotype
MGI:3715830
cx12
Allelic
Composition
Cdh23v/Cdh23v
Myo7a4626SB/Myo7a4626SB
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• identical to Myo7a4626SB/ Myo7a4626SB

nervous system
• identical to Myo7a4626SB/ Myo7a4626SB




Genotype
MGI:3715833
cx13
Allelic
Composition
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
Genetic
Background
mixed
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation (3 available); any Cdh23 mutation (196 available)
Myo7a4626SB mutation (3 available); any Myo7a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• 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
• similar to Cdh23v heterozygous mice

behavior/neurological
• similar to Cdh23v 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





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last database update
08/09/2022
MGI 6.21
The Jackson Laboratory