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Symbol
Name
ID

Smpd1
sphingomyelin phosphodiesterase 1, acid lysosomal
MGI:98325

Phenotype annotations related to homeostasis/metabolism

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	Decreased HDL cholesterol concentration	Increased LDL cholesterol concentration	Hypertriglyceridemia	Elevated circulating alanine aminotransferase concentration		Decreased acid sphingomyelinase activity	Ascites
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
Availability	Mouse Genotype	increased circulating HDL cholesterol level	abnormal lipid homeostasis	abnormal ceramide level	abnormal physiological response to xenobiotic
	Smpd1^tm1Esc/Smpd1^tm1Esc
	Smpd1^tm1Wst/Smpd1^tm1Wst
	Hprt1^{tm1.1(CAG-Smpd1)Jhkh}/Hprt1⁺

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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