Phenotypes Associated with This Genotype

Genotype
MGI:3820396

• Allelic Composition: Abca4^tm1Ght/Abca4^tm1Ght
• Genetic Background: involves: 129S4/SvJae * BALB/c

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

vision/eye

photoreceptor outer segment degeneration ( J:141801 )

• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age

abnormal retina pigment epithelium morphology ( J:141801 )

• levels of lipofuscin and its associated metabolites are higher than in controls in the retinal pigment epithelium of mice, especially when diet is supplemented with vitamin A

• the fractional area of lipofuscin granules in the RPE is 0.11 and reaches 0.14 when supplemented with vitamin A as compared to 0.053 in albino controls fed a control diet

thin retina outer nuclear layer ( J:141801 )

• the outer nuclear layer of 11-month old albinos contains 6 to 7 rows compared to 10 to 11 rows for controls

pigmentation

abnormal retina pigment epithelium morphology ( J:141801 )

• levels of lipofuscin and its associated metabolites are higher than in controls in the retinal pigment epithelium of mice, especially when diet is supplemented with vitamin A

• the fractional area of lipofuscin granules in the RPE is 0.11 and reaches 0.14 when supplemented with vitamin A as compared to 0.053 in albino controls fed a control diet

nervous system

photoreceptor outer segment degeneration ( J:141801 )

• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 3		DOID:0111013	OMIM:604116	J:141801
retinitis pigmentosa 19		DOID:0110354	OMIM:601718	J:141801
Stargardt disease		DOID:0050817	OMIM:248200 OMIM:600110 OMIM:603786	J:141801