absent kidney epithelial cell primary cilium_Cep290<Gt(CC0582)Wtsi>/Cep290<Gt(CC0582)Wtsi>

http://metadb.riken.jp/0020384129P2OlaHsdCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582WtsiCep290GtCC0582Wtsi

absent kidney epithelial cell primary cilium_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

• http://purl.obolibrary.org/obo/MP_0020384

文献

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

• Gisela G. Slaats, et.al., DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome., The Journal of clinical investigation, 2015, 125
  http://rdf.ncbi.nlm.nih.gov/pubmed/26301811