Analysis Tools
homeostasis/metabolism
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• fasting hypertriglyceridemia
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• lipoprotein lipase is reduced on the luminal side of capillaries
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• plasma levels of lipoprotein lipase and are reduced
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• mutants exhibit delayed lipolysis of plasma triglycerides
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renal/urinary system
| N |
• distal tubular basement membranes are normal
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• mice exhibit softening of kidney glomeruli compared with wild-type mice
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• the proximal tubular basement membrane is broader than in wild-type mice
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vision/eye
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• the nonpigmented ciliary body epithelium has less well-developed infoldings with a flattened morphology
• pigmented cell clusters and single cells cover the surface of the ciliary body, whereas no migration of these cells through the ciliary body is seen
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• mice exhibit an age-dependent thickening of the anterior iris basement membrane zone which shows amorphous material and disorganized collagen fibrils
• abnormal migration of iris pigmented cells along the inner limiting membrane and penetration into the retina
• the iris-pupil area shows no typical iris ruff
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• mice show variable separation within the iris pigment epithelium (IPE), with the posterior IPE cell layer commonly detached from the iris
• the detachment is often within the posterior IPE cell layer with rupture of the pigment cells and dispersed pigment granules
• the separated part of the posterior IPE layer adheres with its basement membrane to the posterior ciliary body basement membrane and to the lens
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• pigmented cell clusters and single cells cover the surface of the iris stroma
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• clusters or pigmented spots are seen in the pupil of 22 month old mice
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• pigmented spots cover the corneal endothelium
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• aged mice show pigmented spots on the retinal surface consisting of pigmented cell clusters and single cells
• the pigmented cells appear as a string of cells, elongating from the iris along the retina and the optic nerve
• most of the pigmented cells are visible at the vitreous-retina border, however some are seen within the neural retina
• pigmented cells resemble iris clump cells and marker analysis indicates these as macrophage-like cells
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• abnormal pattern of retinal vessels, with irregular bending of major retinal arteries
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cardiovascular system
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• abnormal pattern of retinal vessels, with irregular bending of major retinal arteries
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pigmentation
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• mice show variable separation within the iris pigment epithelium (IPE), with the posterior IPE cell layer commonly detached from the iris
• the detachment is often within the posterior IPE cell layer with rupture of the pigment cells and dispersed pigment granules
• the separated part of the posterior IPE layer adheres with its basement membrane to the posterior ciliary body basement membrane and to the lens
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• pigmented cell clusters and single cells cover the surface of the iris stroma
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neoplasm
| N |
• following inoculation with B16F10 melanoma and T241 fibrosarcoma tumor cells, homozygotes show no significant differences in the rate of growth of tumors over a period of 18 days relative to wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| pigment dispersion syndrome | DOID:0060680 |
OMIM:600510 |
J:110852 | |
