Susanne. Grond, et.al., PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides., The Journal of investigative dermatology, 2017, 137

http://rdf.ncbi.nlm.nih.gov/pubmed/27751867

Susanne. Grond, et.al., PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides., The Journal of investigative dermatology, 2017, 137

pubmed

allele

http://purl.org/net/cito/citesAsAuthority

• Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5904454

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• reddish skin_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001190B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• shiny skin_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001196B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• wrinkled skin_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001211B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• abnormal epidermal layer morphology_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001216B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• hyperkeratosis_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001242B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• hypoactivity_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001402B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
他12件を見る
• decreased embryo size_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001698B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• acanthosis_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0001874B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• abnormal skin morphology_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0002060B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• impaired skin barrier function_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0002796B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• dry skin_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0003853B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• abnormal skin development_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0003941B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• decreased embryo weight_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0009429B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• absent gastric milk in neonates_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0009546B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• impaired stratum corneum desquamation_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0009597B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• neonatal lethality, complete penetrance_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0011087B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• abnormal ceramide level_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0012232B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr
• abnormal tail tip morphology_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/0013177B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr

class

http://purl.org/net/cito/citesAsAuthority

• Pnpla1<tm1.1Fpwr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5904454