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Symbol
Name
ID
Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
Phenotype annotations related to homeostasis/metabolism
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Abnormal circulating cholesterol concentration
Low cholesterol esterification rate
Fetal ascites
Disease(s) Associated with NPC1
Niemann-Pick disease type C1

Mouse Phenotypes
sphingomyelinosis
abnormal cellular cholesterol metabolism
decreased circulating prolactin level
increased circulating follicle stimulating hormone level
increased circulating luteinizing hormone level
increased circulating cholesterol level
abnormal enzyme/coenzyme level
decreased prolactin level
abnormal lipid homeostasis
abnormal cholesterol homeostasis
abnormal cholesterol level
decreased brain cholesterol level
increased brain cholesterol level
decreased liver cholesterol level
increased liver cholesterol level
increased cholesterol level
abnormal lipid level
abnormal phospholipid level
abnormal sphingomyelin level
abnormal sphingolipid level
abnormal ceramide level
abnormal ganglioside level
increased ceramide level
lipidosis
pulmonary alveolar proteinosis
Availability Mouse Genotype
Npc1m1N/Npc1m1N ! ! ! ! !
Npc1nmf164/Npc1nmf164
Npc1spm/Npc1spm
Npc1tm1.1Dso/Npc1tm1.1Dso
Npc1tm1Mbjg/Npc1tm1Mbjg
Npc1tm1Tacf/Npc1tm1Tacf
Npc1m1N/Npc1tm1.2Apl
Npc1tm1.1Dso/Npc1+
Npc1tm1Tacf/Npc1tm2Tacf
Npc1m1N/Npc1tm1.1Apl
Tg(CAG-cre/Esr1*)5Amc/0  (conditional)
Npc1m1N/Npc1tm1.1Apl
Tg(Syn1-cre)671Jxm/0  (conditional)
Npc1tm1.1Apl/Npc1tm1.2Apl
Tg(Pcp2-cre)2Mpin/0  (conditional)

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
10/08/2019
MGI 6.14
The Jackson Laboratory