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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	enlarged spleen	increased macrophage cell number	abnormal macrophage morphology	abnormal alveolar macrophage morphology	microgliosis	abnormal microglial cell physiology	abnormal microglial cell activation	increased microglial cell activation
Availability	Mouse Genotype	increased macrophage derived foam cell number	enlarged spleen	increased macrophage cell number	abnormal macrophage morphology	abnormal alveolar macrophage morphology	microgliosis	abnormal microglial cell physiology	abnormal microglial cell activation	increased microglial cell activation
	Npc1^m1N/Npc1^m1N
	Npc1^nmf164/Npc1^nmf164
	Npc1^spm/Npc1^spm		!
	Npc1^tm1.1Dso/Npc1^tm1.1Dso
	Npc1^m1N/Npc1^tm1.2Apl
	Npc1^m1N/Npc1^tm1.1Apl Tg(CAG-cre/Esr1*)5Amc/0 (conditional)
	Npc1^m1N/Npc1^tm1.1Apl Tg(Syn1-cre)671Jxm/0 (conditional)
	Npc1^tm1.1Apl/Npc1^tm1.2Apl 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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