Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 268656
  • Symbol: Sptlc1
  • Description: serine palmitoyltransferase, long chain base subunit 1
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Gene ID Entry Entry Name Protein Name Type Information
268656 O35704 SPTC1_MOUSE Serine palmitoyltransferase 1 (EC 2.3.1.50) (Long chain base biosynthesis protein 1) (LCB 1) (Serine-palmitoyl-CoA transferase 1) (SPT 1) (SPT1) DISRUPTION PHENOTYPE Knockout are lethal at embryonic stage (PubMed:28100772). Conditional knockouts specific to the adipose tissue develop adipose tissue but exhibit a striking age dependent loss of adipose tissue accompanied by evidence of adipocyte death, increased macrophage infiltration and tissue fibrosis. They also have elevated fasting blood glucose, fatty liver and insulin resistance. They show a significant reduction of total sphingomyelin levels in the adipose tissue (PubMed:28100772). {ECO:0000269|PubMed:28100772}.