Bo. Chang, et.al., In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse., Human molecular genetics, 2006, 15

http://rdf.ncbi.nlm.nih.gov/pubmed/16632484

Bo. Chang, et.al., In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse., Human molecular genetics, 2006, 15

pubmed

allele

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

• Cep290<rd16>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3624136

表現型アノテーション

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

• retinal spots_Cep290<rd16>/Cep290<rd16>
  http://metadb.riken.jp/0012671BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16
• abnormal retinal pigment epithelium morphology_Cep290<rd16>/Cep290<rd16>
  http://metadb.riken.jp/0005201BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16
• thin retinal outer nuclear layer_Cep290<rd16>/Cep290<rd16>
  http://metadb.riken.jp/0008515BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16
• retinal degeneration_Cep290<rd16>/Cep290<rd16>
  http://metadb.riken.jp/0001326BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16
• abnormal rod electrophysiology_Cep290<rd16>/Cep290<rd16>
  http://metadb.riken.jp/0004021BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16
• photoreceptor outer segment degeneration_Cep290<rd16>/Cep290<rd16>
  http://metadb.riken.jp/0008584BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16
• abnormal cone electrophysiology_Cep290<rd16>/Cep290<rd16>
  http://metadb.riken.jp/0004022BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16

class

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

• Cep290<rd16>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3624136