Phenotypes Associated with This Genotype

Genotype
MGI:4360796

• Allelic Composition: Tg(RBP3-ELOVL4*)1Kzh/0
• Genetic Background: C57BL/6-Tg(RBP3-ELOVL4*)1Kzh

• ♀: 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

retina photoreceptor degeneration ( J:97173 )

• at 18 months, 50% of photoreceptor in the outer nuclear layer are degenerated

retina pigment epithelium atrophy ( J:97173 )

• more severe in the center of the retina

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

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

retina deposits ( J:97173 )

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 amplitude is one-third of wild-type

nervous system

retina photoreceptor degeneration ( J:97173 )

• at 18 months, 50% of photoreceptor in the outer nuclear layer are degenerated

pigmentation

retina pigment epithelium atrophy ( J:97173 )

• more severe in the center of the retina

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