intracranial hemorrhage_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>

http://metadb.riken.jp/0001915I129P2OlaHsdC57BL6Cep41GtAW0157WtsiCep41GtAW0157WtsiCep41GtAW0157Wtsi

intracranial hemorrhage_Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• centrosomal protein 41
  http://metadb.riken.jp/db/mgi_rdf/MGI:1891414

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Cep41<Gt(AW0157)Wtsi>/Cep41<Gt(AW0157)Wtsi>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Cep41<Gt(AW0157)Wtsi>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129P2/OlaHsd * C57BL/6

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• intracranial hemorrhage
  http://purl.obolibrary.org/obo/MP_0001915

文献

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

• 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