Anne K. Voss, et.al., MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome., Developmental cell, 2012, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/22921202

Anne K. Voss, et.al., MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome., Developmental cell, 2012, 23

pubmed

allele

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

• Tg(RP23-35B9)33Avo
  http://metadb.riken.jp/db/mgi_rdf/MGI:5447061

表現型アノテーション

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

• atrioventricular septal defect_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0010412I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• ventricular septal defect_Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0010402I129S7SvEvBrdC57BL6Kat6atm22AvoKat6aTbx1tm1BldTbx1Kat6atm22AvoTbx1tm1BldTbx1Kat6a
• abnormal skeleton morphology_Kat6a<tm1Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0005508I129129S7SvEvBrdBALBcC57BL6Kat6atm1AvoKat6aTbx1tm1BldTbx1Kat6atm1AvoKat6aTbx1tm1BldTbx1
• neonatal lethality, complete penetrance_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0011087I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• abnormal palate morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>,Tg(RP23-35B9)33Avo/0
  http://metadb.riken.jp/0003755I129BALBcFVBNKat6atm1AvoKat6atm1AvoTgRP2335B933Avo0TgRP2335B933AvoKat6atm1Avo
• retroesophageal right subclavian artery_Kat6a<tm1Avo>/Kat6a<+>
  http://metadb.riken.jp/0004160I129BALBcFVBNKat6atm1AvoKat6aKat6aKat6atm1Avo
• retroesophageal right subclavian artery_Kat6a<tm2.2Avo>/Kat6a<+>
  http://metadb.riken.jp/0004160IBALBcFVBKat6atm22AvoKat6aKat6atm22AvoKat6a
• athymia_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0000705I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• small thymus_Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0000706I129S7SvEvBrdC57BL6Kat6atm22AvoKat6aTbx1tm1BldTbx1Kat6atm22AvoTbx1tm1BldTbx1Kat6a
• abnormal aortic arch morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0004113I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• interrupted aortic arch, type b_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0011659I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• cleft palate_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0000111I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• abnormal aortic arch morphology_Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0004113I129S7SvEvBrdC57BL6Tbx1tm1BldTbx1Tbx1tm1BldTbx1
• abnormal heart morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0000266I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• overriding aortic valve_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0000273I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• abnormal hematopoietic stem cell morphology_Kat6a<tm2.2Avo>/Kat6a<tm2.2Avo>
  http://metadb.riken.jp/0004808IBALBcFVBKat6atm22AvoKat6atm22AvoKat6atm22Avo
• abnormal vertebrae morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0000137I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• abnormal heart morphology_Kat6a<tm2.2Avo>/Kat6a<+>
  http://metadb.riken.jp/0000266IBALBcFVBKat6atm22AvoKat6aKat6atm22AvoKat6a
• retroesophageal right subclavian artery_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0004160I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• small thymus_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0000706I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• abnormal fourth pharyngeal arch artery morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0006354I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• common ventricle_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0010432I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• retroesophageal right subclavian artery_Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0004160I129S7SvEvBrdC57BL6Kat6atm22AvoKat6aTbx1tm1BldTbx1Kat6atm22AvoTbx1tm1BldTbx1Kat6a
• interrupted aortic arch, type b_Kat6a<tm1Avo>/Kat6a<+>
  http://metadb.riken.jp/0011659I129BALBcFVBNKat6atm1AvoKat6aKat6aKat6atm1Avo
• abnormal aortic arch morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>,Tg(RP23-35B9)33Avo/0
  http://metadb.riken.jp/0004113I129BALBcFVBNKat6atm1AvoKat6atm1AvoTgRP2335B933Avo0TgRP2335B933AvoKat6atm1Avo
• ventricular septal defect_Kat6a<tm2.2Avo>/Kat6a<+>
  http://metadb.riken.jp/0010402IBALBcFVBKat6atm22AvoKat6aKat6atm22AvoKat6a
• atrial septal defect_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0010403I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• transposition of great arteries_Kat6a<tm1Avo>/Kat6a<+>
  http://metadb.riken.jp/0004110I129BALBcFVBNKat6atm1AvoKat6aKat6aKat6atm1Avo
• small thymus_Kat6a<tm1Avo>/Kat6a<+>
  http://metadb.riken.jp/0000706I129BALBcFVBNKat6atm1AvoKat6aKat6aKat6atm1Avo
• abnormal response/metabolism to endogenous compounds_Kat6a<tm1Avo>/Kat6a<+>
  http://metadb.riken.jp/0003638I129BALBcFVBNKat6atm1AvoKat6aKat6aKat6atm1Avo
• cleft secondary palate_Kat6a<tm1Avo>/Kat6a<+>
  http://metadb.riken.jp/0009890I129BALBcFVBNKat6atm1AvoKat6aKat6aKat6atm1Avo
• abnormal palate morphology_Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0003755I129S7SvEvBrdC57BL6Tbx1tm1BldTbx1Tbx1tm1BldTbx1
• interrupted aortic arch, type b_Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0011659I129S7SvEvBrdC57BL6Kat6atm22AvoKat6aTbx1tm1BldTbx1Kat6atm22AvoTbx1tm1BldTbx1Kat6a
• cleft palate_Kat6a<tm2.2Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0000111I129S7SvEvBrdC57BL6Kat6atm22AvoKat6aTbx1tm1BldTbx1Kat6atm22AvoTbx1tm1BldTbx1Kat6a
• abnormal craniofacial morphology_Kat6a<tm2.2Avo>/Kat6a<+>
  http://metadb.riken.jp/0000428IBALBcFVBKat6atm22AvoKat6aKat6atm22AvoKat6a
• lethality throughout fetal growth and development, complete penetrance_Kat6a<tm2.2Avo>/Kat6a<tm2.2Avo>
  http://metadb.riken.jp/0011099IBALBcFVBKat6atm22AvoKat6atm22AvoKat6atm22Avo
• ventricular septal defect_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0010402I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• abnormal cardiovascular system morphology_Kat6a<tm1Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0002127I129129S7SvEvBrdBALBcC57BL6Kat6atm1AvoKat6aTbx1tm1BldTbx1Kat6atm1AvoKat6aTbx1tm1BldTbx1
• abnormal pulmonary trunk morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0000486I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• micrognathia_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0002639I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• retroesophageal right subclavian artery_Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0004160I129S7SvEvBrdC57BL6Tbx1tm1BldTbx1Tbx1tm1BldTbx1
• preweaning lethality, incomplete penetrance_Kat6a<tm1Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0011110I129129S7SvEvBrdBALBcC57BL6Kat6atm1AvoKat6aTbx1tm1BldTbx1Kat6atm1AvoKat6aTbx1tm1BldTbx1
• abnormal hematopoietic stem cell morphology_Kat6a<tm1Avo>/Kat6a<tm1Avo>
  http://metadb.riken.jp/0004808I129SvBALBcFVBNKat6atm1AvoKat6atm1AvoKat6atm1Avo
• abnormal craniofacial morphology_Kat6a<tm1Avo>/Kat6a<+>,Tbx1<tm1Bld>/Tbx1<+>
  http://metadb.riken.jp/0000428I129129S7SvEvBrdBALBcC57BL6Kat6atm1AvoKat6aTbx1tm1BldTbx1Kat6atm1AvoKat6aTbx1tm1BldTbx1

class

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

• Tg(RP23-35B9)33Avo
  http://metadb.riken.jp/db/mgi_rdf/MGI:5447061