retinal photoreceptor degeneration_Cep290<rd16>/Cep290<rd16>,Nrl<tm1Asw>/Nrl<tm1Asw>

http://metadb.riken.jp/0008450I129S1Sv129X1SvJBXD24TyJC57BL6Cep290rd16Cep290rd16Nrltm1AswNrltm1AswNrltm1AswCep290rd16

retinal photoreceptor degeneration_Cep290<rd16>/Cep290<rd16>,Nrl<tm1Asw>/Nrl<tm1Asw>

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
• neural retina leucine zipper gene
  http://metadb.riken.jp/db/mgi_rdf/MGI:102567

遺伝子型

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

• Cep290<rd16>/Cep290<rd16>,Nrl<tm1Asw>/Nrl<tm1Asw>

アレルシンボル

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

• Nrl<tm1Asw>|Cep290<rd16>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6

MP annotation

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

• retinal photoreceptor degeneration
  http://purl.obolibrary.org/obo/MP_0008450

文献

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

• Artur V. Cideciyan, et.al., Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/21245082