About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5925342
Allelic
Composition
Npc1m1N/Npc1tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
B6J.Cg-Npc1m1N/Npc1tm1.1Apl Tg(CAG-cre/Esr1*)5Amc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation (3 available); any Npc1 mutation (17 available)
Npc1tm1.1Apl mutation (0 available); any Npc1 mutation (17 available)
Tg(CAG-cre/Esr1*)5Amc mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average lifespan is 109 days post tamoxifen injection

nervous system
• widespread microgliosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age
• accumulation of unesterified cholesterol in cerebellar lobule X in tamoxifen-treated mice at 18 weeks of age
• 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
• widespread astrocytosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age
• tamoxifen-treated mice exhibit swollen axons in the cortex at 22 weeks of age
• widespread axonal spheroids in the cerebellum of tamoxifen-treated mice at 18 weeks of age
• 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

behavior/neurological
• mice injected with tamoxifen at 6 weeks of age exhibit impaired balance beam performance by 12 weeks which progresses with age

growth/size/body
• mice injected with tamoxifen at 6 weeks of age start to lose weight around 16 weeks of age

hematopoietic system
• widespread microgliosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age

homeostasis/metabolism
• accumulation of unesterified cholesterol in cerebellar lobule X in tamoxifen-treated mice at 18 weeks of age

immune system
• widespread microgliosis in the cerebellum of tamoxifen-treated mice at 18 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Niemann-Pick disease DOID:14504 J:176888


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/08/2019
MGI 6.14
The Jackson Laboratory