Phenotypes Associated with This Genotype

Genotype
MGI:4360797

• Allelic Composition: Tg(RBP3-ELOVL4*)2Kzh/0
• Genetic Background: C57BL/6-Tg(RBP3-ELOVL4*)2Kzh

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

vision/eye

abnormal ocular fundus morphology ( J:97173 )

• abnormalities are more evident as expression levels of the transgene increase in the three lines created

abnormal retina morphology ( J:97173 )

• mice exhibit localized regions of the retina that appear lighter because of depigmentation in areas of retinal pigment epithelium atrophy and photoreceptor degeneration

absent photoreceptor inner segment ( J:97173 )

• in the central retina near the optic nerve head at 7 months

disorganized photoreceptor inner segment ( J:97173 )

• in the near-peripheral retina at 7 months

short photoreceptor inner segment ( J:97173 )

• in the near-peripheral retina at 7 months

absent photoreceptor outer segment ( J:97173 )

• in the central and near peripheral retina near the optic nerve head at 7 months

short photoreceptor outer segment ( J:97173 )

• 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

retina photoreceptor degeneration ( J:97173 )

• 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

retina pigment epithelium atrophy ( J:97173 )

• more severe in the center of the retina

abnormal retina outer nuclear layer morphology ( J:97173 )

• 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

disorganized retina outer nuclear layer ( J:97173 )

abnormal retina outer plexiform layer morphology ( J:97173 )

• obliterated in the central retina near the optic nerve head at 7 months

increased susceptibility to age-related retinal degeneration ( J:97173 )

• progressive, localized, and more severe in the center of the retina

abnormal cone electrophysiology ( J:97173 )

• at rod-saturation, cone b-wave declines in amplitude compared to in wild-type mice

abnormal rod electrophysiology ( J:97173 )

• at 84 weeks, rod b-wave response is absent

nervous system

absent photoreceptor inner segment ( J:97173 )

• in the central retina near the optic nerve head at 7 months

disorganized photoreceptor inner segment ( J:97173 )

• in the near-peripheral retina at 7 months

short photoreceptor inner segment ( J:97173 )

• in the near-peripheral retina at 7 months

absent photoreceptor outer segment ( J:97173 )

• in the central and near peripheral retina near the optic nerve head at 7 months

short photoreceptor outer segment ( J:97173 )

• 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

retina photoreceptor degeneration ( J:97173 )

• 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

retina pigment epithelium atrophy ( J:97173 )

• more severe in the center of the retina

lipofuscinosis ( J:97173 )

• in the retinal pigmented epithelium at 7 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stargardt disease		DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:97173