behavior/neurological
|
• there is no response at any age
|
head tossing
(
J:57150
)
hearing/vestibular/ear
|
• base-to-apex gradient severity of degeneration
• the first sign of degeneration is seen at 3 weeks of age in the outer hair cells of the basal turn of the cochlear
|
|
• TEM analyses of both the crista ampullaris and the macula showed hair deformities from E17 on
• abnormal patterns of kinocilium-stereocilia
|
|
• SEM analysis revealed stereociliary derangements of both inner and outer hair cells by 10 days of age
(J:34019)
• apical cytoplasmic herniation, or blebs
(J:39748)
• fused and/or very large stereocilia
(J:39748)
|
|
• no normal stereocilia arrays are seen from 10 days to 6 months of age
|
|
• no normal stereocilia arrays are seen from 10 days to 6 months of age
|
|
• age-dependent degeneration
|
nervous system
|
• SEM analysis revealed stereociliary derangements of both inner and outer hair cells by 10 days of age
(J:34019)
• apical cytoplasmic herniation, or blebs
(J:39748)
• fused and/or very large stereocilia
(J:39748)
|
|
• no normal stereocilia arrays are seen from 10 days to 6 months of age
|
|
• no normal stereocilia arrays are seen from 10 days to 6 months of age
|
|
• slow degeneration of spiral ganglion cells after 3 weeks of age
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Usher Syndrome, Type ID; USH1D | 601067 | J:174130 | |
