retinal degeneration_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<sla>/Y

http://metadb.riken.jp/0001326I129X1SvJC57BL6Cptm1HrsCptm1HrsHephslaYHephslaCptm1Hrs

retinal degeneration_Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<sla>/Y

表現型アノテーション

MGI marker

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

• hephaestin
  http://metadb.riken.jp/db/mgi_rdf/MGI:1332240
• ceruloplasmin
  http://metadb.riken.jp/db/mgi_rdf/MGI:88476

遺伝子型

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

• Cp<tm1Hrs>/Cp<tm1Hrs>,Heph<sla>/Y

アレルシンボル

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

• Heph<sla>|Cp<tm1Hrs>

遺伝的背景

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

• involves: 129X1/SvJ * C57BL/6

MP annotation

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

• retinal degeneration
  http://purl.obolibrary.org/obo/MP_0001326

文献

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

• Paul. Hahn, et.al., Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration., Proceedings of the National Academy of Sciences of the United States of America, 2004, 101
  http://rdf.ncbi.nlm.nih.gov/pubmed/15365174
• Majda. Hadziahmetovic, et.al., Ceruloplasmin/hephaestin knockout mice model morphologic and molecular features of AMD., Investigative ophthalmology & visual science, 2008, 49
  http://rdf.ncbi.nlm.nih.gov/pubmed/18326691