Analysis Tools
behavior/neurological
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• mice exhibit an exaggerated response to stimuli (110 db) starting at 55-60 days of age
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• decrease in motor capabilities as assessed by the inverted cage lid, coat hanger and balance beam tests
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• first observed at 11 weeks of age
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abnormal gait
(
J:87349
)
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• mice show an unsteady gait detectable between 4 and 12 weeks of age
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reproductive system
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• mutants do not breed well
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cellular
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• mice exhibit an accumulation of foamy macrophages in the lungs, but no alveolar proteinosis
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• progressive accumulation of sphingomyelin in liver
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growth/size/body
weight loss
(
J:179744
)
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• weight loss observed at 9-10 weeks of age as compared to controls
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• difference in weight from wild-type becomes significant at 90 days of age
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hematopoietic system
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• mice exhibit an accumulation of foamy macrophages in the lungs, but no alveolar proteinosis
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• difference in weight from wild-type becomes significant at 90 days of age
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• increase in microglial cell activation in the cerebellum
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homeostasis/metabolism
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• Lysobisphosphatidic acid (LBPA) and glycosylceramide levels are increased in liver
• lipid accumulation in vacuole-like inclusions is observed in liver and spleen by 60 days of age
• GM2 levels are very high in the brain by 15 days of age and remain elevated
• GM3 levels begin to increase by 15 days of age and rise progressively until at least 90 days
• liver tissue contains large amounts of gangliosides (GM2 and GM3)
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• progressive accumulation of sphingomyelin in liver
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• cholesterol levels are increased in the neuronal cell bodies of the CA3 region of the hippocampus, cortex, and Purkinje cells
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• esterified cholesterol in liver tissue is 3-10 fold lower than controls and decreases with age
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• unesterified cholesterol in liver tissue increases with age and is 10-20 fold higher than controls at older ages
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immune system
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• mice exhibit an accumulation of foamy macrophages in the lungs, but no alveolar proteinosis
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• difference in weight from wild-type becomes significant at 90 days of age
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• increase in microglial cell activation in the cerebellum
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liver/biliary system
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• esterified cholesterol in liver tissue is 3-10 fold lower than controls and decreases with age
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• unesterified cholesterol in liver tissue increases with age and is 10-20 fold higher than controls at older ages
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mortality/aging
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• heterozygote matings produce less than the expected ratio of homozygotes
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• average lifespan is 112 +/- 4 days
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nervous system
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• increase in microglial cell activation in the cerebellum
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• cholesterol levels are increased in the neuronal cell bodies of the CA3 region of the hippocampus, cortex, and Purkinje cells
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• loss of cerebellar Purkinje cells is first observed at P30; by P90 few cells are left
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• increase in astrocyte activation in the cerebellum
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• prepulse inhibition is blunted (30%) when compared to wild-type (40%)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Niemann-Pick disease | DOID:14504 | J:179744 | ||
