Vanessa J. Davies, et.al., Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function., Human molecular genetics, 2007, 16

http://rdf.ncbi.nlm.nih.gov/pubmed/17428816

Vanessa J. Davies, et.al., Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function., Human molecular genetics, 2007, 16

pubmed

allele

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

• Opa1<Q285X>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3711758

class

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

• Opa1<Q285X>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3711758

表現型アノテーション

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

• embryonic growth retardation_Opa1<Q285X>/Opa1<+>
  http://metadb.riken.jp/0003984IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Opa1Q285XOpa1
• embryonic growth retardation_Opa1<Q285X>/Opa1<Q285X>
  http://metadb.riken.jp/0003984IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Q285XOpa1Q285X
• abnormal forebrain development_Opa1<Q285X>/Opa1<+>
  http://metadb.riken.jp/0003232IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Opa1Q285XOpa1
• abnormal optic nerve morphology_Opa1<Q285X>/Opa1<+>
  http://metadb.riken.jp/0001330IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Opa1Q285XOpa1
• abnormal vision_Opa1<Q285X>/Opa1<+>
  http://metadb.riken.jp/0002090IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Opa1Q285XOpa1
• abnormal response to new environment_Opa1<Q285X>/Opa1<+>
  http://metadb.riken.jp/0001413IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Opa1Q285XOpa1
• abnormal embryo turning_Opa1<Q285X>/Opa1<Q285X>
  http://metadb.riken.jp/0001700IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Q285XOpa1Q285X
• abnormal cell morphology_Opa1<Q285X>/Opa1<+>
  http://metadb.riken.jp/0000358IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Opa1Q285XOpa1
• abnormal forebrain development_Opa1<Q285X>/Opa1<Q285X>
  http://metadb.riken.jp/0003232IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Q285XOpa1Q285X
• decreased embryo size_Opa1<Q285X>/Opa1<Q285X>
  http://metadb.riken.jp/0001698IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Q285XOpa1Q285X
• abnormal embryo development_Opa1<Q285X>/Opa1<Q285X>
  http://metadb.riken.jp/0001672IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Q285XOpa1Q285X
• embryonic lethality during organogenesis, complete penetrance_Opa1<Q285X>/Opa1<Q285X>
  http://metadb.riken.jp/0011098IC3HeBFeJC57BL6JCrlOpa1Q285XOpa1Q285XOpa1Q285X