Symbol Name ID |
Npc1
NPC intracellular cholesterol transporter 1 MGI:1097712 |
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 |
oligozoospermia |
teratozoospermia |
abnormal sperm head morphology |
absent sperm head |
increased macrophage derived foam cell number |
foam cell reticulosis |
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 |
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Availability | Mouse Genotype | |||||||||||||||||||
Npc1m1N/Npc1m1N | ||||||||||||||||||||
Npc1nmf164/Npc1nmf164 | ||||||||||||||||||||
Npc1spm/Npc1spm | ||||||||||||||||||||
Npc1tm1.1Dso/Npc1tm1.1Dso | ||||||||||||||||||||
Npc1tm1Mbjg/Npc1tm1Mbjg | ||||||||||||||||||||
Npc1m1N/Npc1tm1.2Apl |
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 08/02/2024 MGI 6.24 |
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