Phenotypes Associated with This Genotype

Genotype
MGI:2654520

• Allelic Composition: Rbp4^tm1Gott/Rbp4^tm1Gott
• Genetic Background: involves: 129 * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal retinol level ( J:57513 )

• 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

vision/eye

abnormal retina morphology ( J:214659 )

• eye cups show a large discolored area

abnormal eye electrophysiology ( J:57513 )

• 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

abnormal vision ( J:57513 )

• abnormal vision for the first several months of life which becomes normal by 5 months

• on a vitamin-A deficient diet, vision deteriorates rapidly