Iain M. Dykes, et.al., HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region., Circulation research, 2014, 115

http://rdf.ncbi.nlm.nih.gov/pubmed/24748541

Iain M. Dykes, et.al., HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region., Circulation research, 2014, 115

pubmed

allele

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

• Hic2<Gt(E225A08)1.1Wrst>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5703657
• Hic2<Gt(E225A08)1.2Wrst>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5703658

class

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

• Hic2<Gt(E225A08)1.1Wrst>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5703657
• Hic2<Gt(E225A08)1.2Wrst>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5703658

表現型アノテーション

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

• overriding aortic valve_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0000273B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• overriding aortic valve_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>
  http://metadb.riken.jp/0000273I129P2OlaHsd129S7SvEvBrdHic2GtE225A0811WrstHic2GtE225A0811WrstNkx25tm1creRjsNkx25Nkx25Hic2GtE225A0811WrstNkx25tm1creRjs
• overriding aortic valve_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0000273I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa
• edema_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0001785I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa
• hemorrhage_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>
  http://metadb.riken.jp/0001914I129P2OlaHsd129S7SvEvBrdHic2GtE225A0811WrstHic2GtE225A0811WrstNkx25tm1creRjsNkx25Nkx25Hic2GtE225A0811WrstNkx25tm1creRjs
• hemorrhage_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0001914I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa
他19件を見る
• abnormal myocardial trabeculae morphology_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0002189B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• thin myocardium_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0002652B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• thin myocardium_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>
  http://metadb.riken.jp/0002652I129P2OlaHsd129S7SvEvBrdHic2GtE225A0811WrstHic2GtE225A0811WrstNkx25tm1creRjsNkx25Nkx25Hic2GtE225A0811WrstNkx25tm1creRjs
• thin myocardium_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0002652I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa
• embryonic growth retardation_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>
  http://metadb.riken.jp/0003984I129P2OlaHsd129S7SvEvBrdHic2GtE225A0811WrstHic2GtE225A0811WrstNkx25tm1creRjsNkx25Nkx25Hic2GtE225A0811WrstNkx25tm1creRjs
• embryonic growth retardation_Hic2<Gt(RRN127)Byg>/Hic2<Gt(RRN127)Byg>
  http://metadb.riken.jp/0003984I129P2OlaHsdC57BL6JCD1Hic2GtRRN127BygHic2GtRRN127BygHic2GtRRN127Byg
• abnormal myocardium layer morphology_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0005329B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• ventricular septal defect_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0010402B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• ventricular septal defect_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>
  http://metadb.riken.jp/0010402I129P2OlaHsd129S7SvEvBrdHic2GtE225A0811WrstHic2GtE225A0811WrstNkx25tm1creRjsNkx25Nkx25Hic2GtE225A0811WrstNkx25tm1creRjs
• ventricular septal defect_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0010402I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa
• atrial septal defect_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0010403I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa
• muscular ventricular septal defect_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0010420B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• preweaning lethality_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0010770B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• embryonic lethality, complete penetrance_Hic2<Gt(RRN127)Byg>/Hic2<Gt(RRN127)Byg>
  http://metadb.riken.jp/0011092I129P2OlaHsdC57BL6JCD1Hic2GtRRN127BygHic2GtRRN127BygHic2GtRRN127Byg
• embryonic lethality, complete penetrance_Hic2<Gt(E225A08)Wrst>/Hic2<Gt(E225A08)Wrst>
  http://metadb.riken.jp/0011092I129P2OlaHsdHic2GtE225A08WrstHic2GtE225A08WrstHic2GtE225A08Wrst
• prenatal lethality, incomplete penetrance_Hic2<Gt(RRN127)Byg>/Hic2<+>
  http://metadb.riken.jp/0011101B6129P2Hic2GtRRN127BygHic2GtRRN127BygHic2Hic2GtRRN127BygHic2
• prenatal lethality, incomplete penetrance_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0011101I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa
• embryonic lethality, incomplete penetrance_Hic2<Gt(E225A08)1.2Wrst>/Hic2<Gt(E225A08)1.2Wrst>
  http://metadb.riken.jp/0011102I129P2OlaHsdHic2GtE225A0812WrstHic2GtE225A0812WrstHic2GtE225A0812Wrst
• lethality during fetal growth through weaning, incomplete penetrance_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Mesp1<tm2(cre)Ysa>/Mesp1<+>
  http://metadb.riken.jp/0011112I129P2OlaHsdC57BL6NCrljCBAJNCrljHic2GtE225A0811WrstHic2GtE225A0811WrstMesp1tm2creYsaMesp1Mesp1Hic2GtE225A0811WrstMesp1tm2creYsa