Mouse Genome Informatics
tg
    Tg(RBP3-ELOVL4*)3Kzh/0
C57BL/6-Tg(RBP3-ELOVL4*)3Kzh
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• abnormalities are more evident as expression levels of the transgene increase in the three lines created
• mice exhibit localized regions of the retina that appear lighter because of depigmentation in areas of retinal pigment epithelium atrophy and photoreceptor degeneration
• as early as 3 weeks, the photoreceptor outer segment is severely stunted with disks clustered in groups instead of stacked as in wild-type mice
• at 6 weeks, 50% of photoreceptor in the outer nuclear layer are degenerated
• more severe in the center of the retina
• retinal degeneration is progressive, localized, and more severe in the center of the retina
• retinal degeneration is more severe than in other lines over expressing the same transgene
• at rod-saturation, cone b-wave declines in amplitude compared to in wild-type mice
• rod b-wave response is reduced at 22 weeks and absent at 22 weeks

nervous system
• as early as 3 weeks, the photoreceptor outer segment is severely stunted with disks clustered in groups instead of stacked as in wild-type mice
• at 6 weeks, 50% of photoreceptor in the outer nuclear layer are degenerated

pigmentation
• more severe in the center of the retina

Mouse Models of Human Disease
OMIM IDRef(s)
Stargardt Disease 3; STGD3 600110 J:97173