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Phenotypes Associated with This Genotype
Genotype
MGI:5571628
Allelic
Composition
Tg(APOB)1102Sgy/?
Genetic
Background
B6.Cg-Tg(APOB)1102Sgy
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(APOB)1102Sgy mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• choriocapillaris exhibits loss of fenestrations and focal areas of thickening in 12 month old mice fed a normal or high fat diet
• 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
• 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
• a high-fat diet does not significantly increase plasma cholesterol levels in mutants as it does in wild-type mice

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

pigmentation
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory