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Phenotypes Associated with This Genotype
Genotype
MGI:4436742
Allelic
Composition
Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0
Genetic
Background
B6.Cg-Npc1tm1.1Apl/Npc1tm1.2Apl Tg(Pcp2-cre)2Mpin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1tm1.1Apl mutation (0 available); any Npc1 mutation (17 available)
Npc1tm1.2Apl mutation (0 available); any Npc1 mutation (17 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice do not exhibit premature death

nervous system
N
• Purkinje cells exhibit normal electrophysiology
• 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

behavior/neurological
• by 13 weeks
• 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

homeostasis/metabolism
• mice exhibit age-dependent unesterified cholesterol accumulation in Purkinje cells unlike in wild-type mice

growth/size/body
N
• mice do not exhibit weight loss

immune system

hematopoietic system


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)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory