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Symbol
Name
ID
Npc2
NPC intracellular cholesterol transporter 2
MGI:1915213
Phenotype annotations related to respiratory system
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
Availability Mouse Genotype
Npc2tm1Plob/Npc2tm1Plob

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
05/14/2024
MGI 6.23
The Jackson Laboratory