Ji Eun. Lee, et.al., CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium., Nature genetics, 2012, 44

http://rdf.ncbi.nlm.nih.gov/pubmed/22246503

Ji Eun. Lee, et.al., CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium., Nature genetics, 2012, 44

pubmed

表現型アノテーション

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

• embryonic lethality during organogenesis, incomplete penetrance_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>
  http://metadb.riken.jp/0011108I129P2OlaHsdC57BL6Cep41GtAW0157WtsiCep41GtAW0157WtsiCep41GtAW0157Wtsi
• intracranial hemorrhage_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>
  http://metadb.riken.jp/0001915I129P2OlaHsdC57BL6Cep41GtAW0157WtsiCep41GtAW0157WtsiCep41GtAW0157Wtsi
• exencephaly_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>
  http://metadb.riken.jp/0000914I129P2OlaHsdC57BL6Cep41GtAW0157WtsiCep41GtAW0157WtsiCep41GtAW0157Wtsi
• abnormal hindbrain morphology_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>
  http://metadb.riken.jp/0000841I129P2OlaHsdC57BL6Cep41GtAW0157WtsiCep41GtAW0157WtsiCep41GtAW0157Wtsi
• abnormal embryo turning_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>
  http://metadb.riken.jp/0001700I129P2OlaHsdC57BL6Cep41GtAW0157WtsiCep41GtAW0157WtsiCep41GtAW0157Wtsi
• abnormal pericardium morphology_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>
  http://metadb.riken.jp/0000288I129P2OlaHsdC57BL6Cep41GtAW0157WtsiCep41GtAW0157WtsiCep41GtAW0157Wtsi