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	Unesterified cholesterol accumulation in cultured fibroblasts	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

Npc1^m1N/Npc1^m1N

Npc1^nmf164/Npc1^nmf164

Npc1^spm/Npc1^spm

Npc1^tm1.1Dso/Npc1^tm1.1Dso

Npc1^tm1Mbjg/Npc1^tm1Mbjg

Npc1^tm1Tacf/Npc1^tm1Tacf

Npc1^m1N/Npc1^tm1.2Apl

Npc1^tm1.1Dso/Npc1⁺

Npc1^tm1Tacf/Npc1^tm2Tacf

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23