abnormal lens fiber morphology_Gja8<R205G>/Gja8<R205G>

http://metadb.riken.jp/0002840I129S4SvJaeCWDLeAglSJLJGja8R205GGja8R205GGja8R205G

abnormal lens fiber morphology_Gja8<R205G>/Gja8<R205G>

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<R205G>

アレルシンボル

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

• Gja8<R205G>

遺伝的背景

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

• involves: 129S4/SvJae * CWD/LeAgl * SJL/J

MP annotation

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

• abnormal lens fiber morphology
  http://purl.obolibrary.org/obo/MP_0002840

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