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Symbol
Name
ID
Smpd1
sphingomyelin phosphodiesterase 1, acid lysosomal
MGI:98325
Phenotype annotations related to hematopoietic system
Darker colors indicate more annotations
Human Phenotypes
Anemia
Microcytic anemia
Bone-marrow foam cells
Sea-blue histiocytosis
Thrombocytopenia
Splenomegaly
Disease(s) Associated with SMPD1
Niemann-Pick disease type A
Niemann-Pick disease type B

Mouse Phenotypes
increased macrophage derived foam cell number
hepatosplenomegaly
enlarged spleen
abnormal granulocyte physiology
Availability Mouse Genotype
Smpd1tm1Esc/Smpd1tm1Esc
Smpd1tm1Wst/Smpd1tm1Wst

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
04/23/2024
MGI 6.23
The Jackson Laboratory