Mouse Genome Informatics
tg
    Tg(RBP3-ELOVL4*)2Kzh/0
C57BL/6-Tg(RBP3-ELOVL4*)2Kzh
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
• in the central retina near the optic nerve head at 7 months
• in the near-peripheral retina at 7 months
• in the near-peripheral retina at 7 months
• in the central and near peripheral retina near the optic nerve head at 7 months
• in the far peripheral retina at 7 months, outer segment length is 50% less than in wild-type mice
• in the midperipheral retina at 7 months, outer segment lengths are reduced and debris is found in the subretinal space unlike in wild-type mice
• at 16 weeks, 50% of photoreceptor in the outer nuclear layer are degenerated
• in the far peripheral retina at 7 months, the outer nuclear layer contains only 5 to 6 rows of photoreceptor nuclei compared with 10 to 12 in wild-type mice
• in the midperipheral retina at 7 months, the outer nuclear layer is disorganized and reduced to 3 to 4 rows unlike in wild-type mice
• more severe in the center of the retina
• in the far peripheral retina at 7 months, the outer nuclear layer contains only 5 to 6 rows of photoreceptor nuclei compared with 10 to 12 in wild-type mice
• in the midperipheral retina at 7 months, the outer nuclear layer is disorganized and reduced to 3 to 4 rows unlike in wild-type mice
• mice exhibit a progressive loss of photoreceptor nuclei from the periphery to the center unlike in wild-type mice
• obliterated in the central retina near the optic nerve head at 7 months
• progressive, localized, and more severe in the center of the retina
• at rod-saturation, cone b-wave declines in amplitude compared to in wild-type mice
• at 84 weeks, rod b-wave response is absent

nervous system
• in the central retina near the optic nerve head at 7 months
• in the near-peripheral retina at 7 months
• in the near-peripheral retina at 7 months
• in the central and near peripheral retina near the optic nerve head at 7 months
• in the far peripheral retina at 7 months, outer segment length is 50% less than in wild-type mice
• in the midperipheral retina at 7 months, outer segment lengths are reduced and debris is found in the subretinal space unlike in wild-type mice
• at 16 weeks, 50% of photoreceptor in the outer nuclear layer are degenerated
• in the far peripheral retina at 7 months, the outer nuclear layer contains only 5 to 6 rows of photoreceptor nuclei compared with 10 to 12 in wild-type mice
• in the midperipheral retina at 7 months, the outer nuclear layer is disorganized and reduced to 3 to 4 rows unlike in wild-type mice

pigmentation
• more severe in the center of the retina
• in the retinal pigmented epithelium at 7 months

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