Analysis Tools
hearing/vestibular/ear
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• structure of tricellular tight junctions is abnormal in the inner ear
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• areas lacking outer hair cells in the middle turn of the organ of Corti are populated only with supporting cells that often have enlarged or misshapen apical surfaces occupying the vacant outer hair cell space thus sealing the reticular lamina
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• some hair cells have apical membrane distortions and missing stereocilia bundles
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• at P13, degenerating outer hair cell stereocilia bundles exhibit partial loss of shorter-row stereocilia and fusion of stereocilia with the apical membrane of hair cells
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• inner hair cell degeneration progresses slowly with pronounced cell death at 2 months of age
• however, vestibular hair cells at 2 months of age are intact
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• mice exhibit rapid base-to-apex outer hair cell degeneration
• degeneration of outer hair cells is seen at P12 but not P11 and becomes prominent at P13-P15; degeneration occurs in a mosaic pattern and progresses rapidly until complete loss by 1 month of age
• loss of outer hair cells is more pronounced at the basal and middle turns of the cochlea compared with the apical turn
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• the negative endocochlear potential in adult mice is smaller, however endocochlear potential is established and the positive endocochlear potential is maintained
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• no measurable ABR responses are detected at the maximum level (90 dB peSPL) at 8 weeks of age
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• DPOAEs are absent by the second postnatal week and mice have no responses at 4 and 8 weeks of age, indicating an early postnatal loss of outer hair cell function
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• mice have severe hearing loss by the second postnatal week and by 8 weeks of age, hearing loss is profound
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nervous system
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• some hair cells have apical membrane distortions and missing stereocilia bundles
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• at P13, degenerating outer hair cell stereocilia bundles exhibit partial loss of shorter-row stereocilia and fusion of stereocilia with the apical membrane of hair cells
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• inner hair cell degeneration progresses slowly with pronounced cell death at 2 months of age
• however, vestibular hair cells at 2 months of age are intact
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• mice exhibit rapid base-to-apex outer hair cell degeneration
• degeneration of outer hair cells is seen at P12 but not P11 and becomes prominent at P13-P15; degeneration occurs in a mosaic pattern and progresses rapidly until complete loss by 1 month of age
• loss of outer hair cells is more pronounced at the basal and middle turns of the cochlea compared with the apical turn
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive nonsyndromic deafness 42 | DOID:0110500 |
OMIM:609646 |
J:217755 | |
