abnormal retinal pigment epithelium morphology_Cep290<rd16>/Cep290<rd16>

http://metadb.riken.jp/0005201BXD24TyJCep290rd16JCep290rd16Cep290rd16Cep290rd16

abnormal retinal pigment epithelium morphology_Cep290<rd16>/Cep290<rd16>

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<rd16>/Cep290<rd16>

アレルシンボル

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

• Cep290<rd16>

遺伝的背景

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

• BXD24/TyJ-Cep290<rd16>/J

MP annotation

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

• abnormal retinal pigment epithelium morphology
  http://purl.obolibrary.org/obo/MP_0005201

文献

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

• 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