Toshiyuki. Araki, et.al., Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation., Proceedings of the National Academy of Sciences of the United States of America, 2009, 106

http://rdf.ncbi.nlm.nih.gov/pubmed/19251646

Toshiyuki. Araki, et.al., Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation., Proceedings of the National Academy of Sciences of the United States of America, 2009, 106

pubmed

allele

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

• Ptpn11<tm7Bgn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840251
• Ptpn11<tm6Bgn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840248

class

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

• Ptpn11<tm7Bgn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840251
• Ptpn11<tm6Bgn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3840248

表現型アノテーション

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

• ocular hypertelorism_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0001300I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• thin myocardium_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0002652I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• abnormal heart morphology_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0000266B6129S4Ptpn11tm1BgnPtpn11tm1BgnPtpn11Ptpn11tm1BgnPtpn11
• decreased cranium height_Ptpn11<tm6Bgn>/Ptpn11<+>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0008525I129S6SvEvTacC57BL6CBAJPtpn11tm6BgnPtpn11TgWnt1cre11Rth0Ptpn11Ptpn11tm6BgnTgWnt1cre11Rth
• double outlet right ventricle_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0000284I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• abnormal common myeloid progenitor cell morphology_Ptpn11<tm7Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0006410I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11Ptpn11tm7BgnPtpn11
• perinatal lethality, incomplete penetrance_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0011090I129S4SvJaeC57BL6Ptpn11tm1BgnPtpn11Ptpn11Ptpn11tm1Bgn
• increased atrioventricular cushion size_Ptpn11<tm6Bgn>/Ptpn11<+>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0003808I129S6SvEvTacC3HC57BL6Ptpn11tm6BgnPtpn11TgTekcre12Flv0Ptpn11Ptpn11tm6BgnTgTekcre12Flv
• thin myocardium_Ptpn11<tm6Bgn>/Ptpn11<+>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0002652I129S6SvEvTacC3HC57BL6Ptpn11tm6BgnPtpn11TgTekcre12Flv0Ptpn11Ptpn11tm6BgnTgTekcre12Flv
• decreased body weight_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0001262I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• decreased body weight_Ptpn11<tm7Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001262I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11Ptpn11tm7BgnPtpn11
• embryonic lethality_Ptpn11<tm6Bgn>/Ptpn11<+>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0008762I129S6SvEvTacC3HC57BL6Ptpn11tm6BgnPtpn11TgTekcre12Flv0Ptpn11Ptpn11tm6BgnTgTekcre12Flv
• abnormal common myeloid progenitor cell morphology_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0006410I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• abnormal common myeloid progenitor cell morphology_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0006410I129S4SvJaeC57BL6Ptpn11tm1BgnPtpn11Ptpn11Ptpn11tm1Bgn
• abnormal cardiac epithelial to mesenchymal transition_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0008825I129S4SvJaeC57BL6Ptpn11tm1BgnPtpn11Ptpn11Ptpn11tm1Bgn
• thin myocardium_Meox2<tm1(cre)Sor>/Meox2<+>,Ptpn11<tm6Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002652I129S4SvJaeSor129S6SvEvTacC57BL6Meox2tm1creSorMeox2Ptpn11tm6BgnPtpn11Meox2tm1creSorPtpn11tm6BgnPtpn11Meox2
• ocular hypertelorism_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001300I129S4SvJaeC57BL6Ptpn11tm1BgnPtpn11Ptpn11Ptpn11tm1Bgn
• heart valve hyperplasia_Meox2<tm1(cre)Sor>/Meox2<+>,Ptpn11<tm6Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0003958I129S4SvJaeSor129S6SvEvTacC57BL6Meox2tm1creSorMeox2Ptpn11tm6BgnPtpn11Meox2tm1creSorPtpn11tm6BgnPtpn11Meox2
• atrial septal defect_Meox2<tm1(cre)Sor>/Meox2<+>,Ptpn11<tm6Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0010403I129S4SvJaeSor129S6SvEvTacC57BL6Meox2tm1creSorMeox2Ptpn11tm6BgnPtpn11Meox2tm1creSorPtpn11tm6BgnPtpn11Meox2
• decreased survivor rate_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0008770I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• decreased body length_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001258I129S4SvJaeC57BL6Ptpn11tm1BgnPtpn11Ptpn11Ptpn11tm1Bgn
• decreased body length_Ptpn11<tm7Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001258I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11Ptpn11tm7BgnPtpn11
• double outlet right ventricle_Ptpn11<tm6Bgn>/Ptpn11<+>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0000284I129S6SvEvTacC3HC57BL6Ptpn11tm6BgnPtpn11TgTekcre12Flv0Ptpn11Ptpn11tm6BgnTgTekcre12Flv
• decreased cranium height_Ptpn11<tm7Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0008525I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11Ptpn11tm7BgnPtpn11
• decreased body length_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0001258I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• abnormal heart morphology_Meox2<tm1(cre)Sor>/Meox2<+>,Ptpn11<tm6Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0000266I129S4SvJaeSor129S6SvEvTacC57BL6Meox2tm1creSorMeox2Ptpn11tm6BgnPtpn11Meox2tm1creSorPtpn11tm6BgnPtpn11Meox2
• double outlet right ventricle_Meox2<tm1(cre)Sor>/Meox2<+>,Ptpn11<tm6Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0000284I129S4SvJaeSor129S6SvEvTacC57BL6Meox2tm1creSorMeox2Ptpn11tm6BgnPtpn11Meox2tm1creSorPtpn11tm6BgnPtpn11Meox2
• perinatal lethality, incomplete penetrance_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0011090C129S4Ptpn11tm1BgnPtpn11tm1BgnPtpn11Ptpn11tm1BgnPtpn11
• ventricular septal defect_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0010402I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• decreased cranium height_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0008525I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• ventricular septal defect_Meox2<tm1(cre)Sor>/Meox2<+>,Ptpn11<tm6Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0010402I129S4SvJaeSor129S6SvEvTacC57BL6Meox2tm1creSorMeox2Ptpn11tm6BgnPtpn11Meox2tm1creSorPtpn11tm6BgnPtpn11Meox2
• ventricular septal defect_Ptpn11<tm6Bgn>/Ptpn11<+>,Tg(Tek-cre)12Flv/0
  http://metadb.riken.jp/0010402I129S6SvEvTacC3HC57BL6Ptpn11tm6BgnPtpn11TgTekcre12Flv0Ptpn11Ptpn11tm6BgnTgTekcre12Flv
• atrial septal defect_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0010403I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• perinatal lethality, incomplete penetrance_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0011090B6129S4Ptpn11tm1BgnPtpn11tm1BgnPtpn11Ptpn11tm1BgnPtpn11
• ocular hypertelorism_Ptpn11<tm6Bgn>/Ptpn11<+>,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001300I129S6SvEvTacC57BL6CBAJPtpn11tm6BgnPtpn11TgWnt1cre11Rth0Ptpn11Ptpn11tm6BgnTgWnt1cre11Rth
• increased atrioventricular cushion size_Ptpn11<tm7Bgn>/Ptpn11<tm7Bgn>
  http://metadb.riken.jp/0003808I129S4SvJae129S6SvEvTacC57BL6Ptpn11tm7BgnPtpn11tm7BgnPtpn11tm7Bgn
• decreased body weight_Ptpn11<tm1Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001262I129S4SvJaeC57BL6Ptpn11tm1BgnPtpn11Ptpn11Ptpn11tm1Bgn