optic nerve atrophy_Ndufs4<tm1Rpa>/Ndufs4<tm1Rpa>,Tg(Nes-cre)1Kln/0

http://metadb.riken.jp/0001059I129S4SvJaeSorC57BL6SJLNdufs4tm1RpaNdufs4tm1RpaTgNescre1Kln0TgNescre1KlnNdufs4tm1Rpa

optic nerve atrophy_Ndufs4<tm1Rpa>/Ndufs4<tm1Rpa>,Tg(Nes-cre)1Kln/0

表現型アノテーション

MGI marker

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

• NADH dehydrogenase (ubiquinone) Fe-S protein 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:1343135
• transgene insertion 1, Rudiger Klein
  http://metadb.riken.jp/db/mgi_rdf/MGI:2176172

遺伝子型

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

• Ndufs4<tm1Rpa>/Ndufs4<tm1Rpa>,Tg(Nes-cre)1Kln/0

アレルシンボル

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

• Tg(Nes-cre)1Kln|Ndufs4<tm1Rpa>

遺伝的背景

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

• involves: 129S4/SvJaeSor * C57BL/6 * SJL

MP annotation

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

• optic nerve atrophy
  http://purl.obolibrary.org/obo/MP_0001059

文献

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

• Albert. Quintana, et.al., Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome., Proceedings of the National Academy of Sciences of the United States of America, 2010, 107
  http://rdf.ncbi.nlm.nih.gov/pubmed/20534480