cardiovascular system
• retinal vasculature appears to terminate in the inner nuclear layer, a deep vascular plexus is not visible, and imaging with 488-Fluor-conjugated isolectin indicates a poorly developed deep retinal layer
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skeleton
• decreased to approximately half normal levels at 5 weeks of age
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• decreased to approximately half normal levels at 5 months of age
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vision/eye
• retinal vasculature appears to terminate in the inner nuclear layer, a deep vascular plexus is not visible, and imaging with 488-Fluor-conjugated isolectin indicates a poorly developed deep retinal layer
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• fluorescein leakage from retinal vessels is found in angiography
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• hyaloid vessels persist in the retinas at P8 and in the adult
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• the transition between the inner plexiform layer and inner nuclear layer is abnormal and there is a 10% reduction in the overall retinal thickness due to the diminished capillary beds
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• strobe flash ERGs of dark-adapted homozygotes show decreased alpha and beta wave amplitudes, with the greater impact on the beta wave
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• light-adapted homozygotes show decreased amplitudes of the cone ERG
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nervous system
• fluorescein leakage from retinal vessels is found in angiography
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