Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23ahl mutation
(55 available);
any
Cdh23 mutation
(280 available)
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hearing/vestibular/ear
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• in 3 of 4 cochleae assesed at 12 months of age the organ of Corti had totally degenerated
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nervous system
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• at 9 months of age there is a decrease in the ganglion cell density for each turn over time with the largest cell loss in the basal turn
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23ahl mutation
(55 available);
any
Cdh23 mutation
(280 available)
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hearing/vestibular/ear
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• degeneration of outer hair cells is more extensive than that of inner hair cells and losses of both are more severe in the base of the cochlea than in the apex
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nervous system
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• degeneration of outer hair cells is more extensive than that of inner hair cells and losses of both are more severe in the base of the cochlea than in the apex
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdh23ahl mutation
(55 available);
any
Cdh23 mutation
(280 available)
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hearing/vestibular/ear
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• mice carrying this mutation develop age related hearing loss
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hearing/vestibular/ear
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• progressive inner and outer hair cell loss occur as a result of the age related hearing loss mutation, but in the presence of the ameliorating C57BL/6J allele of Mahl the cochlear hair cell loss on this 129S1 congenic background is less severe at 9 months of age than it is at 6 months of age in mice homozygous for the 129S1/SvImJ allele of Mahl
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• The age related hearing loss allele causes elevated ABR thresholds relative to the 129S1 host background, but this is partially ameliorated by the presence of the C57BL/6J allele of Mahl
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nervous system
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• progressive inner and outer hair cell loss occur as a result of the age related hearing loss mutation, but in the presence of the ameliorating C57BL/6J allele of Mahl the cochlear hair cell loss on this 129S1 congenic background is less severe at 9 months of age than it is at 6 months of age in mice homozygous for the 129S1/SvImJ allele of Mahl
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hearing/vestibular/ear
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• these mice, homozygous for the c.735A point mutation that causes age related hearing loss and heterozgyous for the ameliorating C57BL/6J-derived modifier, have a 16 kHz ABR threshold at 3 months of age that is less than mice homozygous for the 129S1/SvImJ-derived modifier, proving the C57BL/6J allele dominant
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Allelic Composition |
Cdh23ahl/Cdh23ahl mt-Trm1
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Genetic Background |
either: A/J X (A/J x CAST/Ei)F1 or A/J X (CAST/Ei x A/J)F1 |
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hearing/vestibular/ear
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• average ABR threshold is significantly increased by 3 months of age
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• the presence of this mitochondrial sequence polymorphism in mice homozygous for the ahl allele results in age related hearing loss by 3 months of age, which is absent when the CAST/Ei mitochondrial sequence is instead present
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Allelic Composition |
Cdh23ahl/Cdh23ahl mt-Trm2
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Genetic Background |
either: NOD/LtJ X (NOD/LtJ x CAST/Ei)F1 or SKH2/J X (SKH2/J x CAST/Ei)F1 |
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hearing/vestibular/ear
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• as in Cdh23ahl homozygotes
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• as in Cdh23ahl homozygotes
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hearing/vestibular/ear
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• at 4 to 6 weeks of age, significantly elevated sound pressure thresholds
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• show age-dependent hearing loss by 12 weeks of age
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hearing/vestibular/ear
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• severe hearing loss by 5 months of age
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hearing/vestibular/ear
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• severe hearing loss by 5 months of age
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hearing/vestibular/ear
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• exhibit the highest ABR threshold compared to single homozygous mice Gpr98frings/Gpr98frings Cdh23ahl/Cdh23+ and Gpr98frings/Gpr98+ Cdh23ahl/Cdh23ahl
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• already near deaf by 5 months of age
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hearing/vestibular/ear
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• 20 dB increase in 16 kHz ABR threshold at 6 weeks of age
• 50 dB increase in 16 kHz ABR threshold at 13 weeks of age
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hearing/vestibular/ear
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• at 4 to 6 weeks of age, significantly elevated sound pressure thresholds
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• show age-dependent hearing loss by 12 weeks of age
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