retinal cone cell degeneration_Pde6c<cpfl1>/Pde6c<cpfl1>

http://metadb.riken.jp/0008444B6CXB1Pde6ccpfl1Pde6ccpfl1Pde6ccpfl1Pde6ccpfl1

retinal cone cell degeneration_Pde6c<cpfl1>/Pde6c<cpfl1>

表現型アノテーション

MGI marker

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

• phosphodiesterase 6C, cGMP specific, cone, alpha prime
  http://metadb.riken.jp/db/mgi_rdf/MGI:105956

遺伝子型

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

• Pde6c<cpfl1>/Pde6c<cpfl1>

アレルシンボル

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

• Pde6c<cpfl1>

遺伝的背景

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

• B6.CXB1-Pde6c<cpfl1>

MP annotation

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

• retinal cone cell degeneration
  http://purl.obolibrary.org/obo/MP_0008444

文献

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

• Bo. Chang, et.al., A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene., Proceedings of the National Academy of Sciences of the United States of America, 2009, 106
  http://rdf.ncbi.nlm.nih.gov/pubmed/19887631