Tomoki. Nakamura, et.al., Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations., Proceedings of the National Academy of Sciences of the United States of America, 2009, 106

http://rdf.ncbi.nlm.nih.gov/pubmed/19706403

http://rdf.ncbi.nlm.nih.gov/pubmed/19706403

pubmed

表現型アノテーション

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

• webbed neck_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0012077IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• postnatal lethality_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0002082IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• postnatal growth retardation_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001732IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal frontal bone morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000107IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased body height_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001255IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal nasal capsule morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0004726IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased body weight_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001262IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased cranium height_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0008525IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• cleft upper lip_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0005170IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• large anterior fontanelle_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000085IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal cranium morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000438IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• short mandible_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000088IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal neural crest cell migration_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0002950IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal nose morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0002233IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• lowered ear position_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000024IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• cleft palate_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000111IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal craniofacial morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000428IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased fetal size_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0004200IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• ocular hypertelorism_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001300IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• domed cranium_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000440IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth