Christoph S. Clemen, et.al., The toxic effect of R350P mutant desmin in striated muscle of man and mouse., Acta neuropathologica, 2015, 129

http://rdf.ncbi.nlm.nih.gov/pubmed/25394388

Christoph S. Clemen, et.al., The toxic effect of R350P mutant desmin in striated muscle of man and mouse., Acta neuropathologica, 2015, 129

pubmed

allele

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

• Des<tm1.1Ccrs>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5708562

表現型アノテーション

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

• abnormal heart electrocardiography waveform feature_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0010508I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• impaired skeletal muscle contractility_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0002841I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• cardiomyopathy_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0005330I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• cardiomyopathy_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0005330I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• skeletal muscle degeneration_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0009415I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• atrioventricular block_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0010519I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• atrioventricular block_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0010519I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• cardiac fibrosis_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0003141I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• decreased cardiac stroke volume_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0011952I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• abnormal impulse conducting system conduction_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0003137I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• sinoatrial block_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0010520I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• sinoatrial block_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0010520I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• skeletal muscle endomysial fibrosis_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0009420I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• atrial fibrillation_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0008543I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• decreased cardiac muscle contractility_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0005140I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• prolonged HV interval_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0010553I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• abnormal P wave_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0004070I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• progressive muscle weakness_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0000748I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• dilated cardiomyopathy_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0002795I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• prolonged HV interval_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0010553I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• abnormal skeletal muscle fiber morphology_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0003084I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• irregular heartbeat_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0001636I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• abnormal heart electrocardiography waveform feature_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0010508I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• ventricular premature beat_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0009732I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• irregular heartbeat_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0001636I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• dilated cardiomyopathy_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0002795I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• increased mitochondria size_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0011630I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• abnormal soleus morphology_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0003081I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• dystrophic muscle_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0000752I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• centrally nucleated skeletal muscle fibers_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0009404I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• abnormal skeletal muscle fiber morphology_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0003084I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• myopathy_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0000751I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• ventricular tachycardia_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0008950I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• cardiac fibrosis_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0003141I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• ventricular tachycardia_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0008950I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• ventricular premature beat_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0009732I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• skeletal muscle fiber degeneration_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0009412I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• abnormal mitochondrion morphology_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0006035I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• atrial fibrillation_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0008543I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• decreased grip strength_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0010053I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• abnormal Z lines_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0004091I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• abnormal impulse conducting system conduction_Des<tm1.1Ccrs>/Des<+>
  http://metadb.riken.jp/0003137I129C57BL6JDestm11CcrsDesDesDestm11Ccrs
• decreased cardiac muscle contractility_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0005140I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs
• increased variability of skeletal muscle fiber size_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>
  http://metadb.riken.jp/0009403I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs

class

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

• Des<tm1.1Ccrs>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5708562