Symbol Name ID |
Smpd1
sphingomyelin phosphodiesterase 1, acid lysosomal MGI:98325 |
Darker colors indicate more annotations |
Human Phenotypes | Decreased HDL cholesterol concentration |
Increased LDL cholesterol concentration |
Hypertriglyceridemia |
Elevated circulating alanine aminotransferase concentration |
Elevated circulating aspartate aminotransferase concentration |
Decreased acid sphingomyelinase activity |
Ascites |
Disease(s) Associated with SMPD1 | |||||||
Niemann-Pick disease type A | |||||||
Niemann-Pick disease type B |
Mouse Phenotypes | increased circulating HDL cholesterol level |
abnormal lipid homeostasis |
abnormal ceramide level |
abnormal physiological response to xenobiotic |
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Availability | Mouse Genotype | ||||
Smpd1tm1Esc/Smpd1tm1Esc | |||||
Smpd1tm1Wst/Smpd1tm1Wst | |||||
Hprt1tm1.1(CAG-Smpd1)Jhkh/Hprt1+ |
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 04/30/2024 MGI 6.23 |
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