Phenotypes Associated with This Genotype

Genotype
MGI:5571628

• Allelic Composition: Tg(APOB)1102Sgy/?
• Genetic Background: B6.Cg-Tg(APOB)1102Sgy

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

vision/eye

abnormal choriocapillaris morphology ( J:151253 )

• choriocapillaris exhibits loss of fenestrations and focal areas of thickening in 12 month old mice fed a normal or high fat diet

abnormal retina pigment epithelium morphology ( J:151253 )

• degeneration of the retinal pigment epithelium (RPE)

• RPE shows loss of basolateral infoldings and numerous cytoplasmic vacuoles, some of which are filled with membrane-like material, in 12 month old mutants fed a normal diet

• mutants fed a high fat diet do not develop more or larger RPE vacuoles compared to mutants on a normal diet

abnormal Bruch membrane morphology ( J:151253 )

• Bruch membrane is thickened in mutants on a normal diet or high-fat diet at 12 months of age

• 12 month old mutants fed a normal diet exhibit basal laminar deposits containing long-spacing collagen in Bruch membrane that are thicker than those in wild-type mice fed a high fat diet

• 50% of mutants on a high fat diet develop basal linear-like deposits within Bruch membrane, however such deposits are not seen in mutants fed a regular diet or in wild-type mice on a high fat diet

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:151253 )

• a high-fat diet does not significantly increase plasma cholesterol levels in mutants as it does in wild-type mice

cardiovascular system

abnormal choriocapillaris morphology ( J:151253 )

• choriocapillaris exhibits loss of fenestrations and focal areas of thickening in 12 month old mice fed a normal or high fat diet

pigmentation

abnormal retina pigment epithelium morphology ( J:151253 )

• degeneration of the retinal pigment epithelium (RPE)

• RPE shows loss of basolateral infoldings and numerous cytoplasmic vacuoles, some of which are filled with membrane-like material, in 12 month old mutants fed a normal diet

• mutants fed a high fat diet do not develop more or larger RPE vacuoles compared to mutants on a normal diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
age related macular degeneration 1		DOID:0110014	OMIM:603075	J:151253