Natalie. Wolkow, et.al., Ferroxidase hephaestin's cell-autonomous role in the retinal pigment epithelium., The American journal of pathology, 2012, 180

http://rdf.ncbi.nlm.nih.gov/pubmed/22342521

Natalie. Wolkow, et.al., Ferroxidase hephaestin's cell-autonomous role in the retinal pigment epithelium., The American journal of pathology, 2012, 180

pubmed

allele

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

• Heph<tm1.2Jdun>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5490638
• Heph<tm1.1Jdun>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5490635

表現型アノテーション

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

• abnormal iron level_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.2Jdun>/Heph<tm1.2Jdun>
  http://metadb.riken.jp/0001770I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm12JdunHephtm12JdunCptm1HrsHephtm12Jdun
• abnormal iron level_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.1Jdun>/Heph<tm1.1Jdun>,Tg(BEST1-cre)1Jdun/0,Tg(Rho-cre)#Yzl/0
  http://metadb.riken.jp/0001770I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm11JdunHephtm11JdunTgBEST1cre1Jdun0TgRhocreYzl0TgBEST1cre1JdunHephtm11JdunTgRhocreYzlCptm1Hrs
• abnormal coat/ hair morphology_Heph<tm1.2Jdun>/Heph<tm1.2Jdun>
  http://metadb.riken.jp/0000367IC57BL6C57BL6NTacHephtm12JdunHephtm12JdunHephtm12Jdun
• neurodegeneration_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.2Jdun>/Heph<tm1.2Jdun>
  http://metadb.riken.jp/0002229I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm12JdunHephtm12JdunCptm1HrsHephtm12Jdun
• abnormal retinal pigment epithelium morphology_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<sla>/Heph<sla>
  http://metadb.riken.jp/0005201I129X1SvJCptm1HrsCptm1HrsHephslaHephslaHephslaCptm1Hrs
• anemia_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.2Jdun>/Heph<tm1.2Jdun>
  http://metadb.riken.jp/0001577I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm12JdunHephtm12JdunCptm1HrsHephtm12Jdun
• abnormal retinal pigment epithelium morphology_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.1Jdun>/Heph<tm1.1Jdun>,Tg(BEST1-cre)1Jdun/0
  http://metadb.riken.jp/0005201I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm11JdunHephtm11JdunTgBEST1cre1Jdun0Cptm1HrsTgBEST1cre1JdunHephtm11Jdun
• abnormal iron level_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<sla>/Heph<sla>
  http://metadb.riken.jp/0001770I129X1SvJCptm1HrsCptm1HrsHephslaHephslaHephslaCptm1Hrs
• abnormal protein level_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.1Jdun>/Heph<tm1.1Jdun>,Tg(BEST1-cre)1Jdun/0,Tg(Rho-cre)#Yzl/0
  http://metadb.riken.jp/0008469I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm11JdunHephtm11JdunTgBEST1cre1Jdun0TgRhocreYzl0TgBEST1cre1JdunHephtm11JdunTgRhocreYzlCptm1Hrs
• decreased circulating iron level_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<sla>/Heph<sla>
  http://metadb.riken.jp/0004151I129X1SvJCptm1HrsCptm1HrsHephslaHephslaHephslaCptm1Hrs
• retinal pigment epithelium atrophy_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.1Jdun>/Heph<tm1.1Jdun>,Tg(BEST1-cre)1Jdun/0
  http://metadb.riken.jp/0005548I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm11JdunHephtm11JdunTgBEST1cre1Jdun0Cptm1HrsTgBEST1cre1JdunHephtm11Jdun
• abnormal iron level_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<tm1.1Jdun>/Heph<tm1.1Jdun>,Tg(BEST1-cre)1Jdun/0
  http://metadb.riken.jp/0001770I129X1SvJC57BL6C57BL6NTacCptm1HrsCptm1HrsHephtm11JdunHephtm11JdunTgBEST1cre1Jdun0Cptm1HrsTgBEST1cre1JdunHephtm11Jdun

class

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

• Heph<tm1.2Jdun>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5490638
• Heph<tm1.1Jdun>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5490635