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Symbol
Name
ID
Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
Phenotype annotations related to hematopoietic system
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Bone-marrow foam cells
Sea-blue histiocytosis
Splenomegaly
Disease(s) Associated with NPC1
Niemann-Pick disease type C1

Mouse Phenotypes
increased macrophage derived foam cell number
increased macrophage cell number
abnormal macrophage morphology
abnormal alveolar macrophage morphology
microgliosis
enlarged spleen
abnormal microglial cell physiology
abnormal microglial cell activation
increased microglial cell activation
Availability Mouse Genotype
Npc1m1N/Npc1m1N
Npc1nmf164/Npc1nmf164
Npc1spm/Npc1spm !
Npc1tm1.1Dso/Npc1tm1.1Dso
Npc1m1N/Npc1tm1.2Apl
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