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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
Niemann-Pick disease type C1

Mouse Phenotypes
enlarged liver sinusoidal spaces
decreased liver cholesterol level
increased liver cholesterol level
abnormal liver morphology
abnormal hepatocyte morphology
increased liver weight
enlarged liver
hepatic steatosis
pale liver
Availability Mouse Genotype
Npc1m1N/Npc1m1N !
Npc1nmf164/Npc1nmf164
Npc1spm/Npc1spm !
Npc1tm1.1Dso/Npc1tm1.1Dso
Npc1tm1Mbjg/Npc1tm1Mbjg
Npc1tm1Tacf/Npc1tm1Tacf
Npc1tm1Tacf/Npc1tm2Tacf

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
10/01/2019
MGI 6.14
The Jackson Laboratory