Nicole T M. Saksens, et.al., Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity., Nature genetics, 2016, 48

http://rdf.ncbi.nlm.nih.gov/pubmed/26691986

Nicole T M. Saksens, et.al., Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity., Nature genetics, 2016, 48

pubmed

allele

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

• Ctnna1<Tvrm5>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5689559

class

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

• Ctnna1<Tvrm5>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5689559

表現型アノテーション

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

• retinal cone cell degeneration_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0008444C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal c wave shape_Ctnna1<Tvrm5>/Ctnna1<+>
  http://metadb.riken.jp/0012040C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Ctnna1Ctnna1Tvrm5
• abnormal eye electrophysiology_Ctnna1<Tvrm5>/Ctnna1<+>
  http://metadb.riken.jp/0005551C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Ctnna1Ctnna1Tvrm5
• abnormal retinal pigmentation_Ctnna1<Tvrm5>/Ctnna1<+>
  http://metadb.riken.jp/0005103C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Ctnna1Ctnna1Tvrm5
• abnormal retinal pigment epithelium morphology_Ctnna1<Tvrm5>/Ctnna1<+>
  http://metadb.riken.jp/0005201C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Ctnna1Ctnna1Tvrm5
• retinal spots_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0012671C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal c wave shape_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0012040C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• decreased b wave amplitude_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0012144C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal rod electrophysiology_Ctnna1<Tvrm5>/Ctnna1<+>
  http://metadb.riken.jp/0004021C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Ctnna1Ctnna1Tvrm5
• abnormal eye electrophysiology_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0005551C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal ocular fundus morphology_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0002864C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal retinal pigmentation_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0005103C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• retinal photoreceptor degeneration_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0008450C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal retinal pigment epithelium morphology_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0005201C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• thin retinal outer nuclear layer_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0008515C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal retina outer limiting membrane morphology_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0010236C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• decreased a wave amplitude_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0012143C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• abnormal rod electrophysiology_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0004021C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5
• retinal rod cell degeneration_Ctnna1<Tvrm5>/Ctnna1<Tvrm5>
  http://metadb.riken.jp/0008451C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Tvrm5Ctnna1Tvrm5