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Phenotypes Associated with This Genotype
Genotype
MGI:4436744
Allelic
Composition
Npc1m1N/Npc1tm1.2Apl
Genetic
Background
B6.Cg-Npc1m1N/Npc1tm1.2Apl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Npc1m1N mutation (2 available); any Npc1 mutation (37 available)
Npc1tm1.2Apl mutation (0 available); any Npc1 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die around 49 days of age
• no mice survive longer than 9 weeks

nervous system

behavior/neurological
• on a rotarod

growth/size/body
• at weaning
• at 7 weeks of age

homeostasis/metabolism
• mice exhibit an increase in unestrified cholesterol in the cerebellum compared with wild-type mice

cellular
• mice exhibit proliferation of foamy cells in the liver unlike wild-type mice

immune system

hematopoietic system

Mouse Models of Human Disease
OMIM ID Ref(s)
Niemann-Pick Disease, Type C1; NPC1 257220 J:157113


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory