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Symbol
Name
ID

Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712

Phenotype annotations related to liver/biliary system

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes	Hepatomegaly	Prolonged neonatal jaundice
Disease(s) Associated with NPC1	Hepatomegaly	Prolonged neonatal jaundice
Niemann-Pick disease type C1

Mouse Phenotypes		dilated liver sinusoidal space	enlarged liver	increased liver weight	decreased liver cholesterol level	increased liver cholesterol level	abnormal liver morphology	abnormal hepatocyte morphology	hepatic steatosis	pale liver
Availability	Mouse Genotype	dilated liver sinusoidal space	enlarged liver	increased liver weight	decreased liver cholesterol level	increased liver cholesterol level	abnormal liver morphology	abnormal hepatocyte morphology	hepatic steatosis	pale liver
	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^tm1Tacf/Npc1^tm2Tacf

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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