abnormal brain vasculature morphology_Ndufs4<tm1Rpa>/Ndufs4<tm1Rpa>,Tg(Nes-cre)1Kln/0

http://metadb.riken.jp/0004950I129S4SvJaeSorC57BL6SJLNdufs4tm1RpaNdufs4tm1RpaTgNescre1Kln0TgNescre1KlnNdufs4tm1Rpa

abnormal brain vasculature morphology_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

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

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

• abnormal brain vasculature morphology
  http://purl.obolibrary.org/obo/MP_0004950

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