Marcel V. Alavi, et.al., A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy., Brain : a journal of neurology, 2007, 130

http://rdf.ncbi.nlm.nih.gov/pubmed/17314202

Marcel V. Alavi, et.al., A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy., Brain : a journal of neurology, 2007, 130

pubmed

allele

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

• Opa1<M1Bewi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4412032

class

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

• Opa1<M1Bewi>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4412032

表現型アノテーション

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

• embryonic lethality, complete penetrance_Opa1<M1Bewi>/Opa1<M1Bewi>
  http://metadb.riken.jp/0011092IC3HeBFeJC57BL6Opa1M1BewiOpa1M1BewiOpa1M1Bewi
• edema_Opa1<M1Bewi>/Opa1<M1Bewi>
  http://metadb.riken.jp/0001785IC3HeBFeJC57BL6Opa1M1BewiOpa1M1BewiOpa1M1Bewi
• gliosis_Opa1<M1Bewi>/Opa1<+>
  http://metadb.riken.jp/0002183IC3HeBFeJC57BL6Opa1M1BewiOpa1Opa1Opa1M1Bewi
• embryonic growth retardation_Opa1<M1Bewi>/Opa1<M1Bewi>
  http://metadb.riken.jp/0003984IC3HeBFeJC57BL6Opa1M1BewiOpa1M1BewiOpa1M1Bewi
• decreased retinal ganglion cell number_Opa1<M1Bewi>/Opa1<+>
  http://metadb.riken.jp/0006309IC3HeBFeJC57BL6Opa1M1BewiOpa1Opa1Opa1M1Bewi
• thin retinal inner plexiform layer_Opa1<M1Bewi>/Opa1<+>
  http://metadb.riken.jp/0008513IC3HeBFeJC57BL6Opa1M1BewiOpa1Opa1Opa1M1Bewi
• abnormal optic nerve morphology_Opa1<M1Bewi>/Opa1<+>
  http://metadb.riken.jp/0001330IC3HeBFeJC57BL6Opa1M1BewiOpa1Opa1Opa1M1Bewi
• abnormal retinal nerve fiber layer morphology_Opa1<M1Bewi>/Opa1<+>
  http://metadb.riken.jp/0006303IC3HeBFeJC57BL6Opa1M1BewiOpa1Opa1Opa1M1Bewi

トランスクリプトームデータ

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

• CD28298
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD28298