Benjamin T. Kile, et.al., Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia., Blood, 2007, 110

http://rdf.ncbi.nlm.nih.gov/pubmed/17515402

Benjamin T. Kile, et.al., Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia., Blood, 2007, 110

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

トランスクリプトームデータ

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

• CD19861
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD19861

allele

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

• Wdr1<Gt(XN462)Byg>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3784953

表現型アノテーション

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

• abnormal megakaryocyte morphology_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0002417C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• increased osteoclast cell number_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0004984C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• increased neutrophil cell number_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0000219C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• abnormal immune system physiology_Rag2<tm1Fwa>/Rag2<tm1Fwa>,Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0001790I129SSvEvC57BL6Rag2tm1FwaRag2tm1FwaWdr1redeWdr1redeWdr1redeRag2tm1Fwa
• ear inflammation_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0001849C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• abnormal thrombopoiesis_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0000228C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• thrombocytopenia_Igh-J<tm1Dhu>/Igh-J<tm1Dhu>,Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0003179I129S7SvEvBrdBALBcC57BL6IghJtm1DhuIghJtm1DhuWdr1redeWdr1redeWdr1redeIghJtm1Dhu
• embryonic lethality during organogenesis, complete penetrance_Wdr1<Gt(XN462)Byg>/Wdr1<Gt(XN462)Byg>
  http://metadb.riken.jp/0011098I129P2OlaHsdWdr1GtXN462BygWdr1GtXN462BygWdr1GtXN462Byg
• impaired neutrophil chemotaxis_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0008720C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• anemia_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0001577C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• thrombocytopenia_Rag2<tm1Fwa>/Rag2<tm1Fwa>,Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0003179I129SSvEvC57BL6Rag2tm1FwaRag2tm1FwaWdr1redeWdr1redeWdr1redeRag2tm1Fwa
• increased megakaryocyte cell number_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0008254C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• epidermal hyperplasia_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0001222C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• abnormal erythropoiesis_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0000245C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• postnatal lethality, incomplete penetrance_Wdr1<Gt(XN462)Byg>/Wdr1<rede>
  http://metadb.riken.jp/0011086I129P2OlaHsdC57BL6Wdr1GtXN462BygWdr1redeWdr1redeWdr1GtXN462Byg
• abnormal osteoclast physiology_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0001541C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• embryonic lethality between implantation and somite formation, incomplete penetrance_Wdr1<Gt(XN462)Byg>/Wdr1<Gt(XN462)Byg>
  http://metadb.riken.jp/0011106I129P2OlaHsdWdr1GtXN462BygWdr1GtXN462BygWdr1GtXN462Byg
• abnormal myelopoiesis_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0001601C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• ear inflammation_Wdr1<Gt(XN462)Byg>/Wdr1<rede>
  http://metadb.riken.jp/0001849I129P2OlaHsdC57BL6Wdr1GtXN462BygWdr1redeWdr1redeWdr1GtXN462Byg
• thrombocytopenia_Wdr1<Gt(XN462)Byg>/Wdr1<rede>
  http://metadb.riken.jp/0003179I129P2OlaHsdC57BL6Wdr1GtXN462BygWdr1redeWdr1redeWdr1GtXN462Byg
• abnormal immune system physiology_Igh-J<tm1Dhu>/Igh-J<tm1Dhu>,Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0001790I129S7SvEvBrdBALBcC57BL6IghJtm1DhuIghJtm1DhuWdr1redeWdr1redeWdr1redeIghJtm1Dhu
• increased mean platelet volume_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0002599C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• skin inflammation_Wdr1<Gt(XN462)Byg>/Wdr1<rede>
  http://metadb.riken.jp/0004947I129P2OlaHsdC57BL6Wdr1GtXN462BygWdr1redeWdr1redeWdr1GtXN462Byg
• decreased body size_Wdr1<Gt(XN462)Byg>/Wdr1<rede>
  http://metadb.riken.jp/0001265I129P2OlaHsdC57BL6Wdr1GtXN462BygWdr1redeWdr1redeWdr1GtXN462Byg
• thrombocytopenia_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0003179C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• increased bleeding time_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0005606C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• abnormal platelet morphology_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0004720C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• abnormal platelet alpha-granule morphology_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0014060C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• skin inflammation_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0004947C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• abnormal platelet dense granule morphology_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0004721C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede
• abnormal platelet shape_Wdr1<rede>/Wdr1<rede>
  http://metadb.riken.jp/0003405C57BL6Wdr1redeWdr1redeWdr1redeWdr1rede