Mouse Genome Informatics
hm
    Abca4tm1Ght/Abca4tm1Ght
involves: 129S4/SvJae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• 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
• 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
• mice supplemented with vitamin A accumulate more higher levels of all-trans retinoic acid in both the liver and eyes

pigmentation
• 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
OMIM IDRef(s)
Cone-Rod Dystrophy 3; CORD3 604116 J:141801
Retinitis Pigmentosa 19; RP19 601718 J:141801
Stargardt Disease 1; STGD1 248200 J:141801