abnormal retinal pigmentation_Ctnna1<Tvrm5>/Ctnna1<+>

http://metadb.riken.jp/0005103C57BL6JCtnna1Tvrm5PjnCtnna1Tvrm5Ctnna1Ctnna1Ctnna1Tvrm5

abnormal retinal pigmentation_Ctnna1<Tvrm5>/Ctnna1<+>

表現型アノテーション

MGI marker

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

• catenin (cadherin associated protein), alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88274

遺伝子型

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

• Ctnna1<Tvrm5>/Ctnna1<+>

アレルシンボル

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

• Ctnna1<+>|Ctnna1<Tvrm5>

遺伝的背景

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

• C57BL/6J-Ctnna1<Tvrm5>/Pjn

MP annotation

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

• abnormal retinal pigmentation
  http://purl.obolibrary.org/obo/MP_0005103

文献

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

• 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