abnormal cone electrophysiology_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>

http://metadb.riken.jp/0004022I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi

abnormal cone electrophysiology_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>

表現型アノテーション

MGI marker

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

• Leber congenital amaurosis 5 (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1923032

遺伝子型

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

• Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>

アレルシンボル

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

• Lca5<Gt(AG0283)Wtsi>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6

MP annotation

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

• abnormal cone electrophysiology
  http://purl.obolibrary.org/obo/MP_0004022

文献

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

• Karsten. Boldt, et.al., Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice., The Journal of clinical investigation, 2011, 121
  http://rdf.ncbi.nlm.nih.gov/pubmed/21606596