Fabiola. Quintero-Rivera, et.al., MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus., Human molecular genetics, 2015, 24

http://rdf.ncbi.nlm.nih.gov/pubmed/25574029

Fabiola. Quintero-Rivera, et.al., MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus., Human molecular genetics, 2015, 24

pubmed

表現型アノテーション

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

• ventricular septal defect_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0010402EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• interrupted aortic arch_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0004157EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• aorta coarctation_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0003387EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• double outlet right ventricle, ventricular defect committed to aorta_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0011666EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• aortic arch hypoplasia_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0010485EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• abnormal heart valve morphology_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0000285EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• abnormal heart apex morphology_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0012515EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• patent ductus arteriosus_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0003139EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• abnormal aortic arch morphology_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0004113EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• embryonic lethality between implantation and placentation, complete penetrance_Matr3<Gt(RRR075)Byg>/Matr3<Gt(RRR075)Byg>
  http://metadb.riken.jp/0011095EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3GtRRR075BygMatr3GtRRR075Byg
• abnormal heart left ventricle outflow tract morphology_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0010429EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• muscular ventricular septal defect_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0010420EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• bicuspid pulmonary valve_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0010527EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• embryonic lethality before implantation, incomplete penetrance_Matr3<Gt(RRR075)Byg>/Matr3<Gt(RRR075)Byg>
  http://metadb.riken.jp/0011104EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3GtRRR075BygMatr3GtRRR075Byg
• double outlet right ventricle, Taussig bing type_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0011668EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• perimembraneous ventricular septal defect_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0010418EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3
• bicuspid aortic valve_Matr3<Gt(RRR075)Byg>/Matr3<+>
  http://metadb.riken.jp/0010484EI129129P2OlaHsdC57BL6JorI129P2OlaHsdC57BL6JFVBNMatr3GtRRR075BygMatr3Matr3GtRRR075BygMatr3