Symbol Name ID |
Npc2
NPC intracellular cholesterol transporter 2 MGI:1915213 |
Darker colors indicate more annotations |
Human Phenotypes | Pulmonary fibrosis |
Respiratory insufficiency |
Neonatal respiratory distress |
Respiratory failure |
Disease(s) Associated with NPC2 | ||||
Niemann-Pick disease type C2 |
Mouse Phenotypes | abnormal lung vasculature morphology |
increased lung weight |
abnormal alveolar macrophage morphology |
pulmonary alveolar proteinosis |
abnormal lung morphology |
abnormal type II pneumocyte morphology |
increased alveolar lamellar body number |
small alveolar lamellar bodies |
thick pulmonary interalveolar septum |
abnormal surfactant composition |
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Availability | Mouse Genotype | ||||||||||
Npc2tm1Plob/Npc2tm1Plob |
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 05/14/2024 MGI 6.23 |
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