interrupted aortic arch_Eya1<tm1Rilm>/Eya1<tm1Rilm>,Six1<tm1Mair>/Six1<+>

http://metadb.riken.jp/0004157I129S1Sv129X1SvJC57BL6Eya1tm1RilmEya1tm1RilmSix1tm1MairSix1Six1Eya1tm1RilmSix1tm1Mair

interrupted aortic arch_Eya1<tm1Rilm>/Eya1<tm1Rilm>,Six1<tm1Mair>/Six1<+>

表現型アノテーション

MGI marker

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

• sine oculis-related homeobox 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:102780
• EYA transcriptional coactivator and phosphatase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:109344

遺伝子型

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

• Eya1<tm1Rilm>/Eya1<tm1Rilm>,Six1<tm1Mair>/Six1<+>

アレルシンボル

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

• Six1<+>|Eya1<tm1Rilm>|Six1<tm1Mair>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

MP annotation

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

• interrupted aortic arch
  http://purl.obolibrary.org/obo/MP_0004157

文献

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

• Chaoshe. Guo, et.al., A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis., The Journal of clinical investigation, 2011, 121
  http://rdf.ncbi.nlm.nih.gov/pubmed/21364285