Analysis Tools
mortality/aging
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• mutants die by 35 weeks of age, with a median survival of 33 weeks
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nervous system
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• mutants exhibit immune cell infiltration in the brain, with an increase in CD45+ leukocytes, CD3+ T-cells, and CD68+ large monocytes
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• mutants exhibit a 2.6-fold increase in autofluorescent accumulation in the brain compared to wild-type mice
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• decrease in brain weight by 13.4% is seen by 6 months of age
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• atrophy of the primary visual cortex
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• at 6 months of age, 21.6% decrease in cortical thickness
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• by 5 months of age, brain atrophy is apparent
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astrocytosis
(
J:177265
)
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• reactive astrocytosis
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• mutants exhibit progressive neurodegeneration, with degenerating neurons within the corpus callosum, hippocampus, and thalamus at 5 months of age
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homeostasis/metabolism
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• mutants exhibit elevated cytokine and chemokine levels at 3 months of age
• fewer cytokines and chemokines are elevated in single mutant mice than in triple Ppt1, Gfap and Vim homozygotes
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immune system
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• mutants exhibit elevated cytokine and chemokine levels at 3 months of age
• fewer cytokines and chemokines are elevated in single mutant mice than in triple Ppt1, Gfap and Vim homozygotes
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• mutants exhibit immune cell infiltration in the brain, with an increase in CD45+ leukocytes, CD3+ T-cells, and CD68+ large monocytes
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neuronal ceroid lipofuscinosis 1 | DOID:0110721 |
OMIM:256730 |
J:177265 | |
