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Symbol
Name
ID
Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Vertical supranuclear gaze palsy
Disease(s) Associated with NPC1
Niemann-Pick disease type C1

Mouse Phenotypes
abnormal cornea morphology
corneal deposits
Availability Mouse Genotype
Npc1m1N/Npc1m1N

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
04/23/2024
MGI 6.23
The Jackson Laboratory