homeostasis/metabolism
• mutants exhibit reduced blood retinol levels (12.5% of wild-type) during the first months of life and are able to acquire hepatic retinol stores but these cannot be mobilized
• on a vitamin-A deficient diet, plasma retinol levels fall to undetectable levels compared to wild-type mice where levels remain constant
• eye cup retinol content is 25% of wild-type at 3 weeks of age; retinol content increases with age at the same rate as in controls but remains lower for as long as 13 weeks
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vision/eye
• eye cups show a large discolored area
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• abnormal ERG response, with an elevated threshold, 100-fold decrease in sensitivity to light (b-wave amplitude) and half of normal response to a maximal stimulus
• dark-adapted ERG analysis shows that vision progressively improves and approaches that of wild-type mice by 24 weeks of age
• on a vitamin-A deficient diet, the b-wave amplitude progressively decreases, the ERG threshold rises, the amplitude of the a-wave decreases and the falling phase is more prolonged compared to an unchanged ERG response in wild-type mice on the same diet
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• abnormal vision for the first several months of life which becomes normal by 5 months
• on a vitamin-A deficient diet, vision deteriorates rapidly
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