abnormal ceramide level_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>

http://metadb.riken.jp/0012232B6129P2CgPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11FpwrPnpla1tm11Fpwr

abnormal ceramide level_Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• patatin-like phospholipase domain containing 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:3617850

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Pnpla1<tm1.1Fpwr>/Pnpla1<tm1.1Fpwr>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Pnpla1<tm1.1Fpwr>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• B6.129P2(Cg)-Pnpla1<tm1.1Fpwr>

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal ceramide level
  http://purl.obolibrary.org/obo/MP_0012232

文献

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

• 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