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

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

pubmed

表現型アノテーション

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

• lowered ear position_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000024IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• large anterior fontanelle_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000085IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• short mandible_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000088IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal frontal bone morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000107IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• 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
他14件を見る
• abnormal cranium morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000438IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• domed cranium_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0000440IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased body height_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001255IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased body weight_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001262IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• ocular hypertelorism_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001300IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• postnatal growth retardation_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0001732IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• postnatal lethality_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0002082IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal nose morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0002233IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal neural crest cell migration_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0002950IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased fetal size_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0004200IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• abnormal nasal capsule morphology_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0004726IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• cleft upper lip_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0005170IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• decreased cranium height_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0008525IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth
• webbed neck_Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0,Tg(Wnt1-cre)11Rth/0
  http://metadb.riken.jp/0012077IC57BL6JCBAJFVBNTgCAGcatPtpn11Q97R1Rbns0TgWnt1cre11Rth0TgCAGcatPtpn11Q97R1RbnsTgWnt1cre11Rth