abnormal corneal endothelium morphology_Col8a2<tm1.1Asj>/Col8a2<tm1.1Asj>

http://metadb.riken.jp/0005301I129S6SvEvTacCol8a2tm11AsjCol8a2tm11AsjCol8a2tm11Asj

abnormal corneal endothelium morphology_Col8a2<tm1.1Asj>/Col8a2<tm1.1Asj>

表現型アノテーション

MGI marker

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

• collagen, type VIII, alpha 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:88464

遺伝子型

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

• Col8a2<tm1.1Asj>/Col8a2<tm1.1Asj>

アレルシンボル

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

• Col8a2<tm1.1Asj>

遺伝的背景

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

• involves: 129S6/SvEvTac

MP annotation

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

• abnormal corneal endothelium morphology
  http://purl.obolibrary.org/obo/MP_0005301

文献

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

• Huan. Meng, et.al., L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy., Investigative ophthalmology & visual science, 2013, 54
  http://rdf.ncbi.nlm.nih.gov/pubmed/23422828