Phenotypes Associated with This Genotype

Genotype
MGI:6159288

• Allelic Composition: Abca4^tm1.1Rsmy/Abca4^tm1.1Rsmy
• Genetic Background: involves: C57BL/6

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

pigmentation

abnormal retina pigment epithelium morphology ( J:255529 )

• 6 month old mice show increased autofluorescence in retinal pigment cells (RPE) indicating accumulation of lipofuscin deposits in RPE cells

• however, no photoreceptor degeneration is seen to occur over 2 months, with mice showing normal outer nuclear layer thickness

vision/eye

abnormal retina pigment epithelium morphology ( J:255529 )

• 6 month old mice show increased autofluorescence in retinal pigment cells (RPE) indicating accumulation of lipofuscin deposits in RPE cells

• however, no photoreceptor degeneration is seen to occur over 2 months, with mice showing normal outer nuclear layer thickness

abnormal eye physiology ( J:255529 )

• 6 month old mice show a 10-fold increase in bis-retinoid A2E levels in retinal pigment cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stargardt disease		DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:255529