Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 14705
  • Symbol: Bscl2
  • Description: BSCL2 lipid droplet biogenesis associated, seipin
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Gene ID Entry Entry Name Protein Name Type Information
14705 Q9Z2E9 BSCL2_MOUSE Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein homolog) DISRUPTION PHENOTYPE Mutant mice display increased early postnatal mortality rate, reduction of total body fat mass, nearly total absence of gonadal fat and great reduction in subcutaneous fat. Mice have enlarged visceral organs, markedly steatotic liver, decreased adipocyte size and number, and display decreased levels of plasma adiponectin and leptin, glucose intolerance and insulin resistance but not hypertriglyceridemia. {ECO:0000269|PubMed:21551454, ECO:0000269|PubMed:22269949}.