Analysis Tools
hearing/vestibular/ear
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• lateral links that connect stereocilia to each other are sparse and frequently disrupted
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• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
• stereocilia of the small and medium rows have round, oblate tips instead of prolate tips
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• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 37% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice
• the mean absolute kinociliary deviation is 25 degrees compared to 8 degrees in wild-type mice
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• incomplete differentiation of stereocilia of the outer hair cells
(J:2196)
• outer hair cells did not show regular W-shaped configuration of the stereocilia throughout the entire turns of the cochlea except for a few hair cells
(J:2196)
• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
(J:135991)
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
(J:135991)
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|
• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further
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• incomplete differentiation of stereocilia of the maculae
• in hair cells of the utricular and saccular maculae, the classical pipe organ configuration of the stereocilia was not observed
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• no ABR response in homozygous mice was recorded at any age
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• VESPs are absent at the maximum stimulus intensity used
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behavior/neurological
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• abnormal drop reflex; mice do not demonstrate expected dorsoflexion and spread out the front paws when quickly lowered from ~20 cm above a table surface, while controls do exhibit this behavior
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• mice exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface
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head shaking
(
J:2196
)
hyperactivity
(
J:2196
)
nervous system
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• lateral links that connect stereocilia to each other are sparse and frequently disrupted
|
|
• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) stereociliary bundles
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
• stereocilia of the small and medium rows have round, oblate tips instead of prolate tips
|
|
• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 37% of the kinocillia being within 15 degrees of the PCP compared to to 84% in wild-type mice
• the mean absolute kinociliary deviation is 25 degrees compared to 8 degrees in wild-type mice
|
|
• incomplete differentiation of stereocilia of the outer hair cells
(J:2196)
• outer hair cells did not show regular W-shaped configuration of the stereocilia throughout the entire turns of the cochlea except for a few hair cells
(J:2196)
• E18.5 embryos have disorganized and fragmented outer hair cell (OHC) stereociliary bundles
(J:135991)
• stereociliary generally assemble into two to three clumps at the cell apical surface instead of forming single V-shaped bundles
(J:135991)
|
|
• many stereocillia of the small and medium rows in P0 mice are shorter than expected and do not elongate further
|
|
• incomplete differentiation of stereocilia of the maculae
• in hair cells of the utricular and saccular maculae, the classical pipe organ configuration of the stereocilia was not observed
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Usher syndrome type 1G | DOID:0110834 |
OMIM:606943 |
J:82022 | |
