abnormal Descemet membrane_Col8a2<tm1.1Asj>/Col8a2<tm1.1Asj>

http://metadb.riken.jp/0004284I129S6SvEvTacC57BL6CBACol8a2tm11AsjCol8a2tm11AsjCol8a2tm11Asj

abnormal Descemet membrane_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 * C57BL/6 * CBA

MP annotation

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

• abnormal Descemet membrane
  http://purl.obolibrary.org/obo/MP_0004284

文献

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

• Albert S. Jun, et.al., An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis., Human molecular genetics, 2012, 21
  http://rdf.ncbi.nlm.nih.gov/pubmed/22002996