abnormal enzyme/coenzyme activity_Uros<tm2Rjde>/Uros<tm3Rjde>

http://metadb.riken.jp/0005584I129S6SvEvTacC57BL6Urostm2RjdeUrostm3RjdeUrostm2RjdeUrostm3Rjde

abnormal enzyme/coenzyme activity_Uros<tm2Rjde>/Uros<tm3Rjde>

表現型アノテーション

MGI marker

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

• uroporphyrinogen III synthase
  http://metadb.riken.jp/db/mgi_rdf/MGI:98917

遺伝子型

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

• Uros<tm2Rjde>/Uros<tm3Rjde>

アレルシンボル

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

• Uros<tm2Rjde>|Uros<tm3Rjde>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6

MP annotation

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

• abnormal enzyme/coenzyme activity
  http://purl.obolibrary.org/obo/MP_0005584

文献

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

• 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