Analysis Tools
growth/size/body
skeleton
|
• mice exhibit asymmetric enlargement of the skeleton, with progressive increase in bone accumulation starting at 3 weeks of age
(J:131617)
• mice develop a fibrous dysplastic bone phenotype postnatally
(J:216100)
|
|
• in some mice, the ossicles are malformed and are affected with increased bone
|
|
• massive increase in bone mineral density at 9 weeks of age
|
|
• abnormal osteocyte morphology in the canalicular network
|
|
• mice exhibit an osteosclerotic phenotype, with increased bone mineral
|
|
• marker analysis indicates defective regulation of bone remodeling in the cochlea
• marker analysis indicates disrupted perilacunar remodeling in cochlea
|
craniofacial
|
• in some mice, the ossicles are malformed and are affected with increased bone
|
hearing/vestibular/ear
|
• in some mice, the ossicles are malformed and are affected with increased bone
|
|
• mice show aggressive bony and fibrous overgrowths that surround the otic capsule and the adjacent vestibular labyrinth
• mice exhibit normal stria vascularis, organ of Corti, tunnel of Corti and intact sensorineural structures of the cochlea and no lesions involving the inner cortex of the otic capsule or centrally in the bony spiral modiolus are seen
|
|
• most, but not all, cochleae have multiple spongy, bony overgrowths involving the bulla, cochlear apex, and labyrinth
• the degree of bone lesion severity correlates with the amount of hearing loss
• the fibrodysplatic-like lesions often increase the thickness of the outer wall of the cochlea and the midmodiolar bone separating the apical scala
• highly disorganized dendritic processes and abnormal osteocyte morphology are seen in the canalicular network compared to the aligned canalicular organization in wild-type cochlea
|
|
• thicker otic capsule wall
|
|
• mice show ABR threshold elevations in response to click- and frequency-specific tone-burst stimuli at 8, 16, and 32 kHz
• increase in ABR threshold is higher in 10-12 week old mice than in 6 week old mice, indicating progressive decline in hearing
|
|
• distortion product otoacoustic emission (DPOAE) response is reduced to a level close to or below the background noise level
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| McCune Albright syndrome | DOID:1858 |
OMIM:174800 |
J:216100 | |
