Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1tm1.1Apl mutation
(0 available);
any
Npc1 mutation
(72 available)
Npc1tm1.2Apl mutation
(0 available);
any
Npc1 mutation
(72 available)
Tg(Pcp2-cre)2Mpin mutation
(1 available)
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mortality/aging
N |
• mice do not exhibit premature death
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nervous system
N |
• Purkinje cells exhibit normal electrophysiology
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• as early as 5.5 to 7 weeks, mice exhibit loss of Purkinje cells unlike wild-type mice
• by 10 weeks, mice exhibit a 15% loss of Purkinje cells in lobule X compared with wild-type mice
• however, no further loss of Purkinje cells in lobule X occur between 10 and 20 weeks
• Purkinje cell loss in lobules II-V is greater than 75% at 10 weeks and approaches 100% by 15 weeks
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behavior/neurological
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• by 10 weeks, mice exhibit difficulties traversing a balance beam unlike wild-type mice
• by 15 weeks, mice exhibit impaired performance on a rotarod compared with wild-type mice
• motor defects are age-dependent
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homeostasis/metabolism
growth/size/body
N |
• mice do not exhibit weight loss
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immune system
hematopoietic system
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation
(3 available);
any
Npc1 mutation
(72 available)
Npc1tm1.1Apl mutation
(0 available);
any
Npc1 mutation
(72 available)
Tg(CAG-cre/Esr1*)5Amc mutation
(9 available)
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mortality/aging
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• average lifespan is 109 days post tamoxifen injection
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nervous system
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• widespread microgliosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age
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• accumulation of unesterified cholesterol in cerebellar lobule X in tamoxifen-treated mice at 18 weeks of age
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• progressive anterior-to-posterior Purkinje cell loss in tamoxifen-treated mice
• cells in anterior lobules degenerate early and those in posterior lobules are more resistant to degeneration
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• widespread astrocytosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age
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• tamoxifen-treated mice exhibit swollen axons in the cortex at 22 weeks of age
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• widespread axonal spheroids in the cerebellum of tamoxifen-treated mice at 18 weeks of age
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• tamoxifen-treated mice exhibit demyelination in the corpus callosum at 22 weeks of age
• widespread secondary demyelination in the cerebellum of tamoxifen-treated mice at 18 weeks of age
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behavior/neurological
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• mice injected with tamoxifen at 6 weeks of age exhibit impaired balance beam performance by 12 weeks which progresses with age
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growth/size/body
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• mice injected with tamoxifen at 6 weeks of age start to lose weight around 16 weeks of age
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hematopoietic system
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• widespread microgliosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age
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homeostasis/metabolism
immune system
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• widespread microgliosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age
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|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation
(3 available);
any
Npc1 mutation
(72 available)
Npc1tm1.1Apl mutation
(0 available);
any
Npc1 mutation
(72 available)
Tg(GFAP-cre/ERT2)13Kdmc mutation
(1 available)
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normal phenotype
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• mice treated with tamoxifen at 6 weeks of age exhibit normal weight gain, motor performance, and survival and do not show Purkinje cell loss, axonal spheroids, demyelination, or activated astrocytes or microglia in the cerebellum, and no functional alterations in synaptic transmission
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation
(3 available);
any
Npc1 mutation
(72 available)
Npc1tm1.1Apl mutation
(0 available);
any
Npc1 mutation
(72 available)
Tg(Syn1-cre)671Jxm mutation
(1 available)
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mortality/aging
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• mice show early death, with an average lifespan of 105 days
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nervous system
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• mice show activated microglia in many brain regions
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• mice show activated astrocytes in many brain regions
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• mice show severe axonal pathology
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• mice exhibit frequent axonal spheroids in the brainstem
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• mice show loss of myelinated fibers in the corpus callosum
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behavior/neurological
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• mice develop motor deficits in the balance beam
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• mice develop motor deficits in the rotarod
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growth/size/body
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• mice exhibit progressive weight loss
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hematopoietic system
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• mice show activated microglia in many brain regions
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homeostasis/metabolism
immune system
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• mice show activated microglia in many brain regions
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