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

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

pubmed

表現型アノテーション

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

• short photoreceptor inner segment_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0008582I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• abnormal retinal pigmentation_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0005103I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• short photoreceptor outer segment_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0008587I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• abnormal eye physiology_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0005253I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• abnormal rod electrophysiology_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0004021I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• abnormal retinal photoreceptor layer morphology_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0003728I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• abnormal cone electrophysiology_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0004022I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• abnormal photoreceptor outer segment morphology_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0003729I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi
• disorganized photoreceptor outer segment_Lca5<Gt(AG0283)Wtsi>/Lca5<Gt(AG0283)Wtsi>
  http://metadb.riken.jp/0008586I129P2OlaHsdC57BL6Lca5GtAG0283WtsiLca5GtAG0283WtsiLca5GtAG0283Wtsi