nuclear cataracts_Gja8<R205G>/Gja8<tm1Scr>

http://metadb.riken.jp/0010254I129S1Sv129X1SvJCWDLeAglSJLJGja8R205GGja8tm1ScrGja8R205GGja8tm1Scr

nuclear cataracts_Gja8<R205G>/Gja8<tm1Scr>

表現型アノテーション

MGI marker

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

• gap junction protein, alpha 8
  http://metadb.riken.jp/db/mgi_rdf/MGI:99953

遺伝子型

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

• Gja8<R205G>/Gja8<tm1Scr>

アレルシンボル

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

• Gja8<R205G>|Gja8<tm1Scr>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * CWD/LeAgl * SJL/J

MP annotation

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

• nuclear cataracts
  http://purl.obolibrary.org/obo/MP_0010254

文献

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

• Chun-Hong. Xia, et.al., Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2., PloS one, 2012, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/23300808