hydroencephaly_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>

http://metadb.riken.jp/0001891129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi

hydroencephaly_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>

表現型アノテーション

MGI marker

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

• centrosomal protein 290
  http://metadb.riken.jp/db/mgi_rdf/MGI:2384917

遺伝子型

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

• Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>

アレルシンボル

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

• Cep290<Gt(CC0582)Wtsi>

遺伝的背景

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

• 129P2/OlaHsd-Cep290<Gt(CC0582)Wtsi>

MP annotation

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

• hydroencephaly
  http://purl.obolibrary.org/obo/MP_0001891

文献

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

• Ann Marie. Hynes, et.al., Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis., Proceedings of the National Academy of Sciences of the United States of America, 2014, 111
  http://rdf.ncbi.nlm.nih.gov/pubmed/24946806