Vanessa J. Davies, et.al., A missense mutation in the murine Opa3 gene models human Costeff syndrome., Brain : a journal of neurology, 2008, 131

http://rdf.ncbi.nlm.nih.gov/pubmed/18222992

Vanessa J. Davies, et.al., A missense mutation in the murine Opa3 gene models human Costeff syndrome., Brain : a journal of neurology, 2008, 131

pubmed

allele

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

• Opa3<m1Votr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5312669

表現型アノテーション

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

• abnormal ventricle myocardium morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0010499IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• dehydration_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001429IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• decreased birth body size_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0009703IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal gait_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001406IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• thin retinal outer nuclear layer_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0008515IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• dilated cardiomyopathy_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0002795IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal retinal layer morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0003727IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal vision_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0002090IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• decreased body weight_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001262IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal liver morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0000598IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• decreased total body fat amount_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0010025IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal mitochondrion morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0006035IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• cardiac interstitial fibrosis_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0005608IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal heart left ventricle morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0003921IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• postnatal growth retardation_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001732IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• thin retinal inner plexiform layer_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0008513IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• preweaning lethality, incomplete penetrance_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0011110IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal optic nerve morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001330IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• decreased retinal ganglion cell number_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0006309IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• dilated heart right ventricle_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0002754IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal abdominal fat pad morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0000010IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal pilomotor reflex_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001492IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• premature death_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0002083IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• dilated heart left ventricle_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0002753IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• tremors_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0000745IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• short snout_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0000445IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal retinal nerve fiber layer morphology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0006303IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• thin interventricular septum_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0010725IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• hunched posture_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001505IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• thin retinal ganglion layer_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0008507IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• abnormal mitochondrial physiology_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0006036IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• hypoactivity_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0001402IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• decreased liver glycogen level_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0010398IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr
• axon degeneration_Opa3<m1Votr>/Opa3<m1Votr>
  http://metadb.riken.jp/0005405IC3HC57BL6JCrlOpa3m1VotrOpa3m1VotrOpa3m1Votr

class

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

• Opa3<m1Votr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5312669

トランスクリプトームデータ

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

• CD28296
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD28296