Phenotypes Associated with This Genotype

Genotype
MGI:3697458

• Allelic Composition: Abca4^tm1Ght/Abca4^tm1Ght
• Genetic Background: involves: 129S4/SvJae

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

vision/eye

abnormal retina pigment epithelium morphology ( J:141801 )

• levels of lipofuscin and its associated metabolites are 20-fold higher than in controls in the retinal pigment epithelium of mice supplemented with vitamin A

abnormal eye physiology ( J:117483 )

• A2E fluorescent product (from condensation of all-trans-retinal) is detected at much higher levels than in wild-type or Rdh12-deficient mice

homeostasis/metabolism

abnormal vitamin A level ( J:141801 )

• mice supplemented with vitamin A accumulate more higher levels of all-trans retinoic acid in both the liver and eyes

pigmentation

abnormal retina pigment epithelium morphology ( J:141801 )

• levels of lipofuscin and its associated metabolites are 20-fold higher than in controls in the retinal pigment epithelium of mice supplemented with vitamin A

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 3		DOID:0111013	OMIM:604116	J:141801
retinitis pigmentosa 19		DOID:0110354	OMIM:601718	J:141801
Stargardt disease		DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:141801