David F. Bishop, et.al., Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions., American journal of human genetics, 2006, 78

http://rdf.ncbi.nlm.nih.gov/pubmed/16532394

David F. Bishop, et.al., Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions., American journal of human genetics, 2006, 78

pubmed

allele

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

• Uros<tm2Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776884
• Uros<tm4Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776890
• Uros<tm1Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776882
• Uros<tm3Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776889

表現型アノテーション

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

• increased porphyrin level_Uros<tm3Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0004147I129S6SvEvTacC57BL6SKH1Urostm3RjdeUrostm3RjdeUrostm3Rjde
• increased porphyrin level_Uros<tm1Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0004147I129S6SvEvTacC57BL6Urostm1RjdeUrostm3RjdeUrostm3RjdeUrostm1Rjde
• increased porphyrin level_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0004147I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• abnormal enzyme/coenzyme activity_Uros<tm3Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0005584I129S6SvEvTacC57BL6Urostm3RjdeUrostm3RjdeUrostm3Rjde
• abnormal circulating protein level_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0005416I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• hemolytic anemia_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001585I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• increased porphyrin level_Uros<tm3Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0004147I129S6SvEvTacC57BL6Urostm3RjdeUrostm3RjdeUrostm3Rjde
• enlarged spleen_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0000691I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• thick skin_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001200I129S6SvEvTacC57BL6SKH1Urostm2RjdeUrostm3RjdeUrostm3RjdeUrostm2Rjde
• preweaning lethality, complete penetrance_Uros<tm1Rjde>/Uros<tm1Rjde>
  http://metadb.riken.jp/0011100I129S6SvEvTacC57BL6Urostm1RjdeUrostm1RjdeUrostm1Rjde
• increased porphyrin level_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0004147I129S6SvEvTacC57BL6SKH1Urostm2RjdeUrostm3RjdeUrostm3RjdeUrostm2Rjde
• abnormal erythropoiesis_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0000245I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• abnormal dermal layer morphology_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001243I129S6SvEvTacC57BL6SKH1Urostm2RjdeUrostm3RjdeUrostm3RjdeUrostm2Rjde
• reticulocytosis_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0002640I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• preweaning lethality, complete penetrance_Uros<tm2Rjde>/Uros<tm2Rjde>
  http://metadb.riken.jp/0011100I129S6SvEvTacC57BL6Urostm2RjdeUrostm2RjdeUrostm2Rjde
• thick epidermis_Uros<tm3Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001219I129S6SvEvTacC57BL6SKH1Urostm3RjdeUrostm3RjdeUrostm3Rjde
• increased porphyrin level_Uros<tm3Rjde>/Uros<tm4Rjde>
  http://metadb.riken.jp/0004147I129S6SvEvTacC57BL6Urostm3RjdeUrostm4RjdeUrostm4RjdeUrostm3Rjde
• skin photosensitivity_Uros<tm3Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001202I129S6SvEvTacC57BL6SKH1Urostm3RjdeUrostm3RjdeUrostm3Rjde
• abnormal erythrocyte physiology_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0003656I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• increased spleen iron level_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0008809I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• mixed cellular infiltration to dermis_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001246I129S6SvEvTacC57BL6SKH1Urostm2RjdeUrostm3RjdeUrostm3RjdeUrostm2Rjde
• skin photosensitivity_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001202I129S6SvEvTacC57BL6SKH1Urostm2RjdeUrostm3RjdeUrostm3RjdeUrostm2Rjde
• abnormal dermis papillary layer morphology_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0009545I129S6SvEvTacC57BL6SKH1Urostm2RjdeUrostm3RjdeUrostm3RjdeUrostm2Rjde
• abnormal enzyme/coenzyme activity_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0005584I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde
• preweaning lethality, complete penetrance_Uros<tm4Rjde>/Uros<tm4Rjde>
  http://metadb.riken.jp/0011100I129S6SvEvTacC57BL6Urostm4RjdeUrostm4RjdeUrostm4Rjde
• acanthosis_Uros<tm2Rjde>/Uros<tm3Rjde>
  http://metadb.riken.jp/0001874I129S6SvEvTacC57BL6SKH1Urostm2RjdeUrostm3RjdeUrostm3RjdeUrostm2Rjde

class

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

• Uros<tm2Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776884
• Uros<tm4Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776890
• Uros<tm1Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776882
• Uros<tm3Rjde>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3776889

トランスクリプトームデータ

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

• CD20098
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD20098