Mouse Genome Informatics
hm
    Abca4tm1Ght/Abca4tm1Ght
involves: 129S4/SvJae * BALB/c
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age
• levels of lipofuscin and its associated metabolites are higher than in controls in the retinal pigment epithelium of mice, especially when diet is supplemented with vitamin A
• the fractional area of lipofuscin granules in the RPE is 0.11 and reaches 0.14 when supplemented with vitamin A as compared to 0.053 in albino controls fed a control diet
• the outer nuclear layer of 11-month old albinos contains 6 to 7 rows compared to 10 to 11 rows for controls

pigmentation
• levels of lipofuscin and its associated metabolites are higher than in controls in the retinal pigment epithelium of mice, especially when diet is supplemented with vitamin A
• the fractional area of lipofuscin granules in the RPE is 0.11 and reaches 0.14 when supplemented with vitamin A as compared to 0.053 in albino controls fed a control diet

nervous system
• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age

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