Analysis Tools
mortality/aging
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• all mice on a genetic background involving 129S1/Sv, BALB/c, C57BL/6 had died by ~130 days of age
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growth/size/body
weight loss
(
J:89617
)
homeostasis/metabolism
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• cholesterol and other lipid accumulation in the liver at 50 days of age with an ~17 fold increase in plant sterols and marked elevations of sphingomyelin, lyso(bis)phosphatidic acid, gangliosides GM2 and GM3, glucosylceramide, lactosylceramide, and asialo-GM2
• lipid accumulation in the brain at 50 days was largely limited to glycolipids with 11 to 15 fold increases in glucosylceramide, lactosylceramide, and asialo-GM2
• galactosylceramide levels were reduced in the brain, reflecting a general loss of myelin lipids
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• about a 6 fold increase in total cholesterol accumulation in the liver at 28 days of age
• about a 10 fold increase in total cholesterol accumulation in the liver at 50 days of age
• no increase in overall cholesterol levels in the brain, putatively due to compensatory losses due to demyelination, neuronal death, and possible imbalance between neuronal cell bodies and distal axons
• on the cellular level in the brain, unesterified cholesterol was stored in neurons within the neocortex, dentate gyrus, hippocampus, and cerebellum
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nervous system
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• similar progressive degeneration of loss as in Npc1m1 homozygotes
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liver/biliary system
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• about a 6 fold increase in total cholesterol accumulation in the liver at 28 days of age
• about a 10 fold increase in total cholesterol accumulation in the liver at 50 days of age
• no increase in overall cholesterol levels in the brain, putatively due to compensatory losses due to demyelination, neuronal death, and possible imbalance between neuronal cell bodies and distal axons
• on the cellular level in the brain, unesterified cholesterol was stored in neurons within the neocortex, dentate gyrus, hippocampus, and cerebellum
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Niemann-Pick disease | DOID:14504 | J:89617 | ||
