hearing/vestibular/ear
• marker analysis indicates a reduction in the number of neural crest-derived melanocytes that infiltrate the developing stria vascularis
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• reduction in thickness and total strial area are seen at the base, mid-turn and apex of the cochlea
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• mice show a reduction in endocochlear potential at P60
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• moderate-to-severe hearing loss at 4 weeks of age which is unchanged at 8 and 25 weeks
• however, distortion-product otoacoustic emissions (DPOAEs) are normal, indicating normal outer hair cell function
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pigmentation
• marker analysis indicates a reduction in the number of neural crest-derived melanocytes that infiltrate the developing stria vascularis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
autosomal recessive nonsyndromic deafness 39 | DOID:0110497 |
OMIM:608265 |
J:289982 |