Phenotypes associated with this allele
Allelic
Composition |
Cdh23v/Cdh23v
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Genetic
Background |
involves: CBA/Ca |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation
(3 available);
any
Cdh23 mutation
(280 available)
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vision/eye
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N |
• no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected
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• 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
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hearing/vestibular/ear
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• disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)
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• 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
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nervous system
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• disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)
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• 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
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Allelic
Composition |
Cdh23v/Cdh23v
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Genetic
Background |
involves: fancier's stocks |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation
(3 available);
any
Cdh23 mutation
(280 available)
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behavior/neurological
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• 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
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• reduced frequency of grooming in males
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• decrease in the frequency of single forepaw lifts in males
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• no wire mesh climbing is seen in males
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• no rearing behavior is seen in males
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digestive/alimentary system
hearing/vestibular/ear
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation
(3 available);
any
Cdh23 mutation
(280 available)
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behavior/neurological
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• adults are unable to swim
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hearing/vestibular/ear
nervous system
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation
(3 available);
any
Cdh23 mutation
(280 available)
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Allelic
Composition |
Cdh23v/Cdh23+
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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
(280 available)
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hearing/vestibular/ear
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• number is lower in region centered at 14% of total cochlear duct length from base at 11-12 weeks of age
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• number is lower in region centered at 14% (60 kHz) of total cochlear duct length from base at 11-12 weeks of age
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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• 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
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• 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
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• elevated CAP thresholds indicate hearing loss
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nervous system
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• number is lower in region centered at 14% of total cochlear duct length from base at 11-12 weeks of age
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• number is lower in region centered at 14% (60 kHz) of total cochlear duct length from base at 11-12 weeks of age
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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Allelic
Composition |
Cdh23v/Cdh23+
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Genetic
Background |
mixed |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23v mutation
(3 available);
any
Cdh23 mutation
(280 available)
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hearing/vestibular/ear
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• 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
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behavior/neurological
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• 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
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vision/eye
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N |
• no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected
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• 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
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Allelic
Composition |
Cdh23v/Cdh23+
Myo7ash1/Myo7a+
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Genetic
Background |
involves: BALB |
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hearing/vestibular/ear
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• mice lose their hearing at around 10 weeks of age
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Allelic
Composition |
Cdh23v/Cdh23+
Myo7a4626SB/Myo7a+
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Genetic
Background |
involves: BALB/cRl * 47BS/Rl * CBA/Ca |
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hearing/vestibular/ear
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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nervous system
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• 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
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• significant reduction in number of stereocilia per rank is seen in noise-exposed mice compared to non-exposed animals
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• 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
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hearing/vestibular/ear
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• identical to Cdh23v/Cdh23v
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nervous system
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• identical to Cdh23v/Cdh23v
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hearing/vestibular/ear
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• identical to Myo7a4626SB/ Myo7a4626SB
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nervous system
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• identical to Myo7a4626SB/ Myo7a4626SB
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hearing/vestibular/ear
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• identical to Myo7a4626SB/ Myo7a4626SB
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nervous system
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• identical to Myo7a4626SB/ Myo7a4626SB
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hearing/vestibular/ear
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• 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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behavior/neurological
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• 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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Analysis Tools