Rama Rao. Damerla, et.al., Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies., Human molecular genetics, 2015, 24

http://rdf.ncbi.nlm.nih.gov/pubmed/25877302

Rama Rao. Damerla, et.al., Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies., Human molecular genetics, 2015, 24

pubmed

表現型アノテーション

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

• cleft palate_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000111C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• aortic valve regurgitation_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0006047C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal renal tubule epithelial cell primary cilium morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0011066C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• atrioventricular valve regurgitation_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0006046C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• polydactyly_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000562C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• decreased length of long bones_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0004686C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• double outlet right ventricle_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000284C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal heart morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000266C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• pulmonary hypoplasia_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0001178C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• muscular ventricular septal defect_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0010420C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• duplex kidney_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0004017C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• misaligned sternebrae_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0012285C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• mandible hypoplasia_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000460C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• dilated renal tubules_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0002705C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• embryonic growth retardation_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0003984C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• ventricular septal defect_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0010402C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• atrioventricular septal defect_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0010412C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal primary cilium morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0013203C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• hydrops fetalis_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0002192C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal intestine development_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0010158C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal vertebrae morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000137C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal cerebellum morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000849C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• micrognathia_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0002639C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• preaxial polydactyly_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0009743C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal nonmotile primary cilium morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0013205C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal tongue morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000762C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• decreased birth body size_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0009703C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• pulmonary valve atresia_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0006130C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• right aortic arch_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0004158C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• absent colon_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0011884C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• decreased brain size_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0000774C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• persistent truncus arteriosis_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0002633C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal turbinate morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0002244C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• prenatal lethality, incomplete penetrance_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0011101C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• split sternum_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0004320C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• kidney cysts_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0003675C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• impaired wound healing_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0001792C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• cleft upper lip_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0005170C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo
• abnormal thoracic cage morphology_2410089E03Rik<b2b012Clo>/2410089E03Rik<b2b012Clo>
  http://metadb.riken.jp/0004624C57BL6J2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo2410089E03Rikb2b012Clo