Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 74442
  • Symbol: Sgms2
  • Description: sphingomyelin synthase 2
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Gene ID Entry Entry Name Protein Name Type Information
74442 Q9D4B1 SMS2_MOUSE Phosphatidylcholine:ceramide cholinephosphotransferase 2 (EC 2.7.8.27) (Sphingomyelin synthase 2) DISRUPTION PHENOTYPE Null mice are viable but exhibit increased cell membrane ceramide and decreased sphingomyelin levels. In both skeletal muscle and adipose tissue, there is a significant increase in glucose uptake. This leads to increased insulin sensitivity and ameliorated high-fat diet-induced obesity. There is blunted NFKB1- and MAP kinase-mediated responses to inflammatory stimuli and macrophages display increased cholesterol efflux into blood circulation. Liver SMS activity is markedly reduced (by about 80%) but only small change in macrophage SMS2 activity (16%). No change in glycosphingolipid levels in plasma. Atherosclerosis in SMS2(-/-)/LDLR(-/-) mice is significantly decreased. {ECO:0000269|PubMed:19590047, ECO:0000269|PubMed:21844222, ECO:0000269|PubMed:22580896}.