S. Merscher, et.al., TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome., Cell, 2001, 104

http://rdf.ncbi.nlm.nih.gov/pubmed/11239417

S. Merscher, et.al., TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome., Cell, 2001, 104

pubmed

allele

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

• Del(16Dgcr2-Hira)1Rak
  http://metadb.riken.jp/db/mgi_rdf/MGI:3702642
• Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem
  http://metadb.riken.jp/db/mgi_rdf/MGI:3703643
• Tbx1<tm1Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2179191

class

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

• Del(16Dgcr2-Hira)1Rak
  http://metadb.riken.jp/db/mgi_rdf/MGI:3702642
• Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem
  http://metadb.riken.jp/db/mgi_rdf/MGI:3703643
• Tbx1<tm1Bem>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2179191

表現型アノテーション

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

• interrupted aortic arch_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0004157EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• ventricular septal defect_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0010402I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• perinatal lethality, incomplete penetrance_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0011090I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• aberrant origin of the right subclavian artery_Tbx1<tm1Bem>/Tbx1<+>
  http://metadb.riken.jp/0010465I129SvC57BL6JSJLTbx1tm1BemTbx1Tbx1tm1BemTbx1
• retroesophageal right subclavian artery_Tbx1<tm1Bem>/Tbx1<+>
  http://metadb.riken.jp/0004160I129SvC57BL6JSJLTbx1tm1BemTbx1Tbx1tm1BemTbx1
• cervical aortic arch_Tbx1<tm1Bem>/Tbx1<+>
  http://metadb.riken.jp/0004161I129SvC57BL6JSJLTbx1tm1BemTbx1Tbx1tm1BemTbx1
• abnormal aortic arch and aortic arch branch attachment_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0010464I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• right aortic arch_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0004158EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• neonatal lethality, incomplete penetrance_Dp(16Dgcr2-Arvcf)1Ais/Del(16Dgcr2-Hira)1Rak
  http://metadb.riken.jp/0011088I129Sv129S6SvEvTacC57BL6FVBNSJLDp16Dgcr2Arvcf1AisDel16Dgcr2Hira1RakDel16Dgcr2Hira1RakDp16Dgcr2Arvcf1Ais
• patent ductus arteriosus_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0003139I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• abnormal aortic arch morphology_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0004113EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• abnormal cardiac outflow tract development_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0006126EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• retroesophageal right subclavian artery_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0004160I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• thymus hypoplasia_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0001823EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• abnormal aortic arch morphology_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0004113I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• abnormal thymus lobule morphology_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0002367EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• neonatal lethality, complete penetrance_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0011087EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• retroesophageal right subclavian artery_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0004160EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• interrupted aortic arch_Tbx1<tm1Bem>/Tbx1<+>
  http://metadb.riken.jp/0004157I129SvC57BL6JSJLTbx1tm1BemTbx1Tbx1tm1BemTbx1
• decreased thymocyte number_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0000715EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• patent ductus arteriosus_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0003139EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• right aortic arch_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0004158I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• interrupted aortic arch_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0004157I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• abnormal heart development_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0000267EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• abnormal heart morphology_Del(16Dgcr2-Hira)1Rak/+,Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0000266I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523BemDel16Dgcr2Hira1Rak
• aberrant origin of the right subclavian artery_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0010465I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• absent parathyroid glands_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0000680I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• abnormal brachiocephalic trunk morphology_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0010663I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• abnormal thymus development_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0000704EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• pulmonary valve atresia_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0006130EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem
• abnormal common carotid artery morphology_Del(16Dgcr2-Hira)1Rak/+
  http://metadb.riken.jp/0012729I129Sv129S6SvEvTacC57BL6FVBNSJLDel16Dgcr2Hira1RakDel16Dgcr2Hira1Rak
• ventricular septal defect_Tg(GNB1L,TBX1,GP1BB,SEPT5)23Bem/0
  http://metadb.riken.jp/0010402EFVBTgGNB1LTBX1GP1BBSEPT523BemorIC57BL6FVBTgGNB1LTBX1GP1BBSEPT523Bem0TgGNB1LTBX1GP1BBSEPT523Bem

トランスクリプトームデータ

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

• CD17075
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD17075