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Symbol
Name
ID
Npc2
NPC intracellular cholesterol transporter 2
MGI:1915213
Phenotype annotations related to hematopoietic system
Darker colors indicate more annotations
Human Phenotypes
Bone-marrow foam cells
Sea-blue histiocytosis
Splenomegaly
Disease(s) Associated with NPC2
Niemann-Pick disease type C2

Mouse Phenotypes
decreased NK cell number
abnormal alveolar macrophage morphology
abnormal NK cell physiology
abnormal T cell physiology
Availability Mouse Genotype
Npc2tm1Plob/Npc2tm1Plob

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
05/14/2024
MGI 6.23
The Jackson Laboratory