Analysis Tools
hearing/vestibular/ear
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• at 3 months (but not at P12), enlarged vessels are observed in the stria vascularis, particularly in the apex of the cochlea
• age-related loss of larger strial vessels, possibly due to a more general loss of vessels
• general disorganization of blood vessels and lack of a well developed capillary bed, esp. in the apex
• approximately two-thirds of strial vessels are lost by 15 months
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• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months
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• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases
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• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months
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• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn
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• by 15 months, complete loss of marginal cells in some areas
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• in severe cases, almost complete degeneration of the stria vascularis by 15 months
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• ABRs recorded at 3-4 months, 6-8 months, and 13-15 months indicate elevated thresholds at all test frequencies, with a slightly higher hearing loss at higher frequencies
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• progressive hearing loss across all test frequencies, also noted on a 129/Sv background
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• hearing loss is initially more severe in the high frequencies but eventually progresses to a relatively flat, profound loss by 15 months
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• progressive hearing loss associated with a primary lesion in the stria vascularis
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cardiovascular system
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• lack of a well developed fine capillary network in both the inner and outer retina layers at 13 months
• absence of any vascular development in the outer retina at 13 months
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• at 3 months (but not at P12), enlarged vessels are observed in the stria vascularis, particularly in the apex of the cochlea
• age-related loss of larger strial vessels, possibly due to a more general loss of vessels
• general disorganization of blood vessels and lack of a well developed capillary bed, esp. in the apex
• approximately two-thirds of strial vessels are lost by 15 months
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nervous system
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• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months
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• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases
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• although large vessels are not seen in spiral ganglion vasculature, a poorly developed capillary bed is observed at 3-4 months
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• slight neuronal loss at 6.5 months and significant spiral ganglion loss by 15 months
• innervation of adjacent vestibular organs remains intact
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vision/eye
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• lack of a well developed fine capillary network in both the inner and outer retina layers at 13 months
• absence of any vascular development in the outer retina at 13 months
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pigmentation
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• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn
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behavior/neurological
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• no swimming impairment or behavioral signs indicative of vestibular defects, such as circling or head shaking
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skeleton
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• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Norrie disease | DOID:0060844 |
OMIM:310600 |
J:77024 | |
