Julien. Vermot, et.al., Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice., Proceedings of the National Academy of Sciences of the United States of America, 2003, 100

http://rdf.ncbi.nlm.nih.gov/pubmed/12563036

Julien. Vermot, et.al., Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice., Proceedings of the National Academy of Sciences of the United States of America, 2003, 100

pubmed

allele

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

• Aldh1a2<tm1Dll>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2451316

class

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

• Aldh1a2<tm1Dll>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2451316

表現型アノテーション

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

• absent third pharyngeal arch_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0010642ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• thymus hypoplasia_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0001823ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0002191NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• persistent truncus arteriosis_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0002633ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal common carotid artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0012729ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal thyroid cartilage morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0002260ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal left subclavian artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0010488NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• abnormal pharyngeal pouch morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0006031ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• short trachea_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0004550NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• decreased body size_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0001265ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• short trachea_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0004550ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal cricoid cartilage morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0002258ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• decreased tracheal cartilage ring number_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0004551NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• abnormal pharyngeal arch artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0002672ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal truncus arteriosus septation_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0010454NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• postnatal lethality, incomplete penetrance_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0011086NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• cervical aortic arch_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0004161NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• double aortic arch_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0004159ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• fusion of glossopharyngeal and vagus nerve_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0004568ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• aberrant origin of the right subclavian artery_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0010465ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal neural crest cell migration_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0002950ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• pharyngeal arch hypoplasia_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0003873ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal left subclavian artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0010488ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal tracheal cartilage morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0003120ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal aortic arch and aortic arch branch attachment_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0010464NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• ventricular septal defect_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0010402ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0002191ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• postnatal lethality, complete penetrance_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0011085ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal third pharyngeal arch artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0006356ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• right aortic arch_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0004158ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal common carotid artery morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0012729NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• decreased body size_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0001265NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• cyanosis_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0001575ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• absent parathyroid glands_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0000680ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal cranial nerve morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0001056ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• aberrant origin of the right subclavian artery_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0010465NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll
• athymia_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0000705ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• abnormal laryngeal cartilage morphology_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0002256ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• conotruncal ridge hypoplasia_Aldh1a2<tm1Dll>/Aldh1a2<tm1Ipc>
  http://metadb.riken.jp/0010587ICD1Aldh1a2tm1DllAldh1a2tm1IpcAldh1a2tm1DllAldh1a2tm1Ipc
• cyanosis_Aldh1a2<tm1Dll>/Aldh1a2<tm1Dll>
  http://metadb.riken.jp/0001575NSAldh1a2tm1DllAldh1a2tm1DllAldh1a2tm1Dll