Kuang-Yung. Lee, et.al., Compound loss of muscleblind-like function in myotonic dystrophy., EMBO molecular medicine, 2013, 5

http://rdf.ncbi.nlm.nih.gov/pubmed/24293317

Kuang-Yung. Lee, et.al., Compound loss of muscleblind-like function in myotonic dystrophy., EMBO molecular medicine, 2013, 5

pubmed

表現型アノテーション

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

• kyphosis_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0000160I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• enlarged heart_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0000274I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• progressive muscle weakness_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0000748I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• muscle degeneration_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0000749I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• abnormal neuromuscular synapse morphology_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0001053I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• decreased body weight_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0001262I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
他22件を見る
• impaired coordination_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0001405I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• abnormal motor coordination/ balance_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0001516I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• abnormal motor capabilities/coordination/movement_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0002066I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• premature death_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0002083I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• heart left ventricle hypertrophy_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0002625I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• dilated heart atrium_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0003140I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• cardiac fibrosis_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0003141I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• impaired muscle relaxation_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0003157I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• prolonged QT interval_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0003233I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• prolonged PR interval_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0003896I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• cardiac interstitial fibrosis_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0005608I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• decreased skeletal muscle fiber size_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0009400I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• increased variability of skeletal muscle fiber size_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0009403I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• centrally nucleated skeletal muscle fibers_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0009404I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• skeletal muscle degeneration_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0009415I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• decreased birth body size_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0009703I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• decreased grip strength_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0010053I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• decreased grip strength_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1Sws>/Mbnl2<tm1Sws>,Tg(Myog-cre)1Eno/0
  http://metadb.riken.jp/0010053I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm1SwsMbnl2tm1SwsTgMyogcre1Eno0Mbnl1tm1SwsTgMyogcre1EnoMbnl2tm1Sws
• prolonged QRS complex duration_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0010392I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• atrioventricular block_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0010519I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2Mbnl1tm1SwsMbnl2Mbnl2tm11Sws
• prenatal lethality, complete penetrance_Mbnl1<tm1Sws>/Mbnl1<tm1Sws>,Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0011091I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1tm1SwsMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11SwsMbnl1tm1Sws
• prenatal lethality, incomplete penetrance_Mbnl1<tm1Sws>/Mbnl1<+>,Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0011101I129S1Sv129S1SvImJC57BLMbnl1tm1SwsMbnl1Mbnl2tm11SwsMbnl2tm11SwsMbnl1Mbnl1tm1SwsMbnl2tm11Sws