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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• apical links are not present in P5 mice
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• at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape
(J:66698)
• at P4, IHCs remain disorganized
(J:66698)
• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) 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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• kinocilia are often dissociated from the stereociliary clumps
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• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice
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• at E18.5, the outer hair cells (OHCs) appear immature
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• at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly
(J:66698)
• at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern
(J:66698)
• 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)
|
|
• kinocilia are often dissociated from the stereociliary clumps
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• in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia
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• in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia
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• at P4, stereocilia appear thick and are often fused and disorganized
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• mice at 3-4 weeks of age do not return normal waveforms at a sound pressure level of 100 dB
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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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vision/eye
| N |
• mice do not exhibit signs of retinal degeneration up to 12 months of age and the melanosomes of the retinal pigment epithelium (RPE) are properly localized
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• electroretinography analysis of mutant retinas show no difference in amplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points
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• electroretinography analysis of mutant retinas show no difference in amplitudes of a- and b-waves, but the implicit times of both waves are significantly faster from the earliest detectable points
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nervous system
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• lateral links that connect stereocilia to each other are sparse and frequently disrupted
|
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• apical links are not present in P5 mice
|
|
• at E18.5, stereocilia of the inner hair cells (IHCs) are positioned correctly, but are in a disorganized line instead of a crescent shape
(J:66698)
• at P4, IHCs remain disorganized
(J:66698)
• E17.5 embryos have disorganized and fragmented inner hair cell (IHC) 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)
|
|
• kinocilia are often dissociated from the stereociliary clumps
|
|
• kinocillia show large mean deviations from the plane cell polarity axis (PCP) with only 14% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 52 degrees compared to 8 degrees in wild-type mice
|
|
• at E18.5, the outer hair cells (OHCs) appear immature
|
|
• at E18.5, the kinocilium is often misplaced from the lateral pole of each cell and the stereocilia, when present, are positioned correctly
(J:66698)
• at P4, all OHCs project stereocilia, but they are present in random clumps instead of a V-shaped pattern
(J:66698)
• 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)
|
|
• kinocilia are often dissociated from the stereociliary clumps
|
|
• in some cases at E18.5, outer hair cells (OHCs) projected no recognizable stereocilia
|
|
• in some cases at E18.5, outer hair cells (OHCs) projected fewer stereocilia
|
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• at P4, stereocilia appear thick and are often fused and disorganized
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cellular
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• kinocilia are often dissociated from the stereociliary clumps
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• kinocilia are often dissociated from the stereociliary clumps
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Usher syndrome type 1D | DOID:0110831 |
OMIM:601067 |
J:66698 | |
