mortality/aging
hearing/vestibular/ear
• at 8 weeks of age, many stereocilia appear to collapse against their nearest neighbors,
• stereocilia are thicker at the base than in the middle or tips
• the few remaining inner hair cell stereocilia are arranged in a single row rather than 3 rows
• outer hair cell stereocilia show loss of structural integrity, particularly those in the outermost row
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• by 16 weeks, stereocilia are elongated and adhere to their neighbors, and at 24 weeks, stereocilia elongate even further and there are fewer stereocilia per inner hair cell
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• number of stereocilia per inner hair cell is reduced to approximately 5 compared to several dozen in wild-type mice at 24 weeks of age, with apparent fusion of the membrane surrounding them
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• inner hair cell ribbon loss is first seen at 8 weeks, preceding the onset of hearing loss, with a 22% reduction at 24 weeks of age
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• mice exhibit higher thresholds indicating that higher sound pressure levels are required to elicit a brainstem response
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• mice do not show hearing loss at 4 and 8 weeks at 12 and 24 kHz, but at 16 and 24 weeks, threshold differences of 35 and 50 dB are seen, indicating severe hearing loss
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cardiovascular system
• cardiac defects
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nervous system
• at 8 weeks of age, many stereocilia appear to collapse against their nearest neighbors,
• stereocilia are thicker at the base than in the middle or tips
• the few remaining inner hair cell stereocilia are arranged in a single row rather than 3 rows
• outer hair cell stereocilia show loss of structural integrity, particularly those in the outermost row
|
• by 16 weeks, stereocilia are elongated and adhere to their neighbors, and at 24 weeks, stereocilia elongate even further and there are fewer stereocilia per inner hair cell
|
• number of stereocilia per inner hair cell is reduced to approximately 5 compared to several dozen in wild-type mice at 24 weeks of age, with apparent fusion of the membrane surrounding them
|
• inner hair cell ribbon loss is first seen at 8 weeks, preceding the onset of hearing loss, with a 22% reduction at 24 weeks of age
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behavior/neurological
N |
• mice do not show circling behavior
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal dominant auditory neuropathy 1 | DOID:0060690 |
OMIM:609129 |
J:193237 |