Phenotypes Associated with This Genotype

Genotype
MGI:2653823

• Allelic Composition: Abca4^tm1Ght/Abca4^tm1Ght
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

vision/eye

abnormal photoreceptor outer segment morphology ( J:56317 )

• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium

• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments

retina photoreceptor degeneration ( J:56317 )

• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration

abnormal retina pigment epithelium morphology ( J:56317 )

• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium

• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density

abnormal Bruch membrane morphology ( J:56317 )

• Bruch's membrane between the retinal pigment epithelium and choroid is thickened

abnormal eye physiology ( J:56317 )

• mutants exhibit a transient accumulation of all-trans- retinaldehyde and transient depletion of all-trans-retinol and all-trans-retinyl esters following photobleach

delayed dark adaptation ( J:56317 )

nervous system

abnormal photoreceptor outer segment morphology ( J:56317 )

• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium

• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments

retina photoreceptor degeneration ( J:56317 )

• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration

pigmentation

abnormal retina pigment epithelium morphology ( J:56317 )

• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium

• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stargardt disease		DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:56317