Analysis Tools
hearing/vestibular/ear
| N |
• normal endocochlear potential
• histochemistry of the organ of Corti shows the centrosomes in the normal position
• cytocauds are not observed
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• diminished amounts of actin in the stereocilia and cuticular plate
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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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• 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 26% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 38 degrees compared to 8 degrees in wild-type mice
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• 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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• kinocilia are often dissociated from the stereociliary clumps
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• sensory cells are lost from the saccular macula by 30 to 40 days of age and there is total loss of the saccular neuroepithelium between 7 months to a year, but the crustal and utricular macula and corresponding nerve fibers are normal even at 1 year
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• by 7 months to 1 year
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• saccular otoconia are normal at 10 days of age, when homozygotes begin to display circling, but degenerate after 25 days of age with the crystalline layer of the saccular otoconial membrane becoming thin and the crystals demineralizing and breaking apart
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• as early as 9 days of age there is no ABR response even at 20 kHz
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• styryl pyridinium dye AM1-43 staining of the utricular maculae shows much less fluorescence and fewer stain-filled hair cells than in controls indicative of diminished transduction by these hair cells
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• homozygotes do not response to rotation in darkness
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• decreased gain relative to controls with a large phase lag at higher frequencies indicating the response to rotation derives entirely from the optikenetic system
|
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• VESPs are absent at the maximum stimulus intensity used
(J:116914)
• homozygotes fail to orient in water and lack vestibular evoked potential
(J:148677)
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homeostasis/metabolism
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• plasma triglycerides and total cholesterol are significantly reduced in mice homozygous for this allele compared with controls, but this was not found in mice homozygous for the av-Tg2742Rpw allele
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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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• homozygotes do not response to rotation in darkness
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• decreased gain relative to controls with a large phase lag at higher frequencies indicating the response to rotation derives entirely from the optikenetic system
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• 3 of 4 mice tested exhibit poor swimming ability; mice can not maneuver in the water and can not remain at the surface
(J:116914)
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nervous system
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• diminished amounts of actin in the stereocilia and cuticular plate
|
|
• lateral links that connect stereocilia to each other are sparse and frequently disrupted
|
|
• apical links are not present in P5 mice
|
|
• 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 26% of the kinocillia being within 15 degrees of the PCP compared to 84% in wild-type mice
• the mean absolute kinociliary deviation is 38 degrees compared to 8 degrees in wild-type mice
|
|
• 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
|
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
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Usher syndrome type 1F | DOID:0110832 |
OMIM:602083 |
J:95655 | |
