Lei. Song, et.al., Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia., The Journal of clinical investigation, 2007, 117

http://rdf.ncbi.nlm.nih.gov/pubmed/17607358

Lei. Song, et.al., Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia., The Journal of clinical investigation, 2007, 117

pubmed

allele

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

• Casq2<tm1Jse>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3721900
• Casq2<tm2Jse>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3721902

表現型アノテーション

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

• enlarged heart atrium_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0008725IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• decreased ventricle muscle contractility_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0005598IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• abnormal myocardial fiber physiology_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0004215IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• decreased heart rate_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0005333NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• ventricular premature beat_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0009732IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• ventricular tachycardia_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0008950NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• decreased ventricle muscle contractility_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0005598NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• decreased heart rate_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0005333IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• cardiac hypertrophy_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0001625IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• enlarged heart atrium_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0008725NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• ventricular premature beat_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0009732NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• cardiac hypertrophy_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0001625NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• heart left ventricle hypertrophy_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0002625NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• abnormal sinus arrhythmia_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0004122IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• ventricular tachycardia_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0008950IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• increased response of heart to induced stress_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0004485NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• abnormal myocardial fiber physiology_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0004215NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• abnormal sinus arrhythmia_Casq2<tm2Jse>/Casq2<tm2Jse>
  http://metadb.riken.jp/0004122NSCasq2tm2JseCasq2tm2JseCasq2tm2Jse
• heart left ventricle hypertrophy_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0002625IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse
• increased response of heart to induced stress_Casq2<tm1Jse>/Casq2<tm1Jse>
  http://metadb.riken.jp/0004485IFVBNCasq2tm1JseCasq2tm1JseCasq2tm1Jse

class

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

• Casq2<tm1Jse>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3721900
• Casq2<tm2Jse>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3721902