Jeanine L. Van Nostrand, et.al., Inappropriate p53 activation during development induces features of CHARGE syndrome., Nature, 2014, 514

http://rdf.ncbi.nlm.nih.gov/pubmed/25119037

Jeanine L. Van Nostrand, et.al., Inappropriate p53 activation during development induces features of CHARGE syndrome., Nature, 2014, 514

pubmed

表現型アノテーション

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

• abnormal outer ear morphology_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0002177I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• retina coloboma_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0010715I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal craniofacial morphology_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000428I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• protruding tongue_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0009908I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal skeleton development_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0002113I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• short humerus_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0004351I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• decreased bone mineral density_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000063I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal cardiac outflow tract development_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0006126I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• decreased cell proliferation_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000352I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• double outlet right ventricle_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000284I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal atrioventricular cushion morphology_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000297I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• short mandible_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000088I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• lethality throughout fetal growth and development, complete penetrance_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0011099I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• small thymus_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000706I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• exencephaly_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000914I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• persistent truncus arteriosis_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0002633I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal neural tube closure_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0003720I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal facial morphology_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0003743I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• cleft palate_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000111I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal kidney development_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000527I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• ventricular septal defect_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0010402I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• abnormal inner ear morphology_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0000026I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• increased apoptosis_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0006042I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• small kidney_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0002989I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att
• cleft upper lip_Tg(CMV-cre)1Cgn/0,Trp53<tm4Att>/Trp53<+>
  http://metadb.riken.jp/0005170I129S4SvJaeBALBcJC57BL6JTgCMVcre1Cgn0Trp53tm4AttTrp53TgCMVcre1CgnTrp53Trp53tm4Att