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Symbol
Name
ID

Npc1
NPC intracellular cholesterol transporter 1
MGI:1097712

Phenotype annotations related to cellular

Darker colors indicate more annotations

Human Phenotypes	Unesterified cholesterol accumulation in cultured fibroblasts
Disease(s) Associated with NPC1
Niemann-Pick disease type C1

Mouse Phenotypes

absent sperm flagellum

abnormal primary cilium morphology

increased macrophage derived foam cell number

foam cell reticulosis

oligozoospermia

teratozoospermia

abnormal sperm head morphology

absent sperm head

abnormal Golgi apparatus morphology

abnormal mitochondrial morphology

abnormal mitochondrial crista morphology

abnormal mitochondrial matrix morphology

abnormal mitochondrial shape

abnormal plasma membrane sphingolipid content

increased plasma membrane sphingolipid content

sphingomyelinosis

abnormal cellular cholesterol metabolism

abnormal lysosome physiology

abnormal mitochondrial physiology

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^m1N/Npc1^tm1.2Apl

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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