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Symbol
Name
ID

Npc2
NPC intracellular cholesterol transporter 2
MGI:1915213

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Low cholesterol esterification rate	Fetal ascites
Disease(s) Associated with NPC2	Low cholesterol esterification rate	Fetal ascites
Niemann-Pick disease type C2

Mouse Phenotypes		increased circulating potassium level	abnormal lipid homeostasis	increased liver cholesterol level	increased cholesterol level	abnormal lipid level	abnormal phospholipid level	lipidosis	pulmonary alveolar proteinosis
Availability	Mouse Genotype	increased circulating potassium level	abnormal lipid homeostasis	increased liver cholesterol level	increased cholesterol level	abnormal lipid level	abnormal phospholipid level	lipidosis	pulmonary alveolar proteinosis
	Npc2^tm1Plob/Npc2^tm1Plob
	Npc2^{tm1e.1(EUCOMM)Wtsi}/Npc2⁺

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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