Talita M. Marin, et.al., Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation., The Journal of clinical investigation, 2011, 121

http://rdf.ncbi.nlm.nih.gov/pubmed/21339643

Talita M. Marin, et.al., Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation., The Journal of clinical investigation, 2011, 121

pubmed

allele

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

• Ptpn11<tm4.2Bgn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5004658

class

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

• Ptpn11<tm4.2Bgn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5004658

表現型アノテーション

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

• abnormal chest morphology_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0004134I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• cardiac fibrosis_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0003141I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• abnormal nose morphology_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002233I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• increased heart weight_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002833I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• dilated cardiomyopathy_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002795I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• heart left ventricle hypertrophy_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002625I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• thick interventricular septum_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0010724I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• abnormal reproductive system morphology_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002160I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• cardiac hypertrophy_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001625I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• enlarged heart_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0000274I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• premature death_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002083I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• decreased ventricle muscle contractility_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0005598I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• abnormal cranium size_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0010031I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• thick ventricular wall_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0002953I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• short femur_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0003109I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• abnormal facial morphology_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0003743I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• abnormal organ of Corti morphology_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0000042I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• abnormal eye distance/ position_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001299I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• decreased body size_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001265I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• ocular hypertelorism_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0001300I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn
• enlarged myocardial fiber_Ptpn11<tm4.2Bgn>/Ptpn11<+>
  http://metadb.riken.jp/0004564I129S6SvEvTacC57BL6JFVBNPtpn11tm42BgnPtpn11Ptpn11Ptpn11tm42Bgn