Guo Qi. Teng, et.al., Homozygous missense N629D hERG (KCNH2) potassium channel mutation causes developmental defects in the right ventricle and its outflow tract and embryonic lethality., Circulation research, 2008, 103

http://rdf.ncbi.nlm.nih.gov/pubmed/18948620

http://rdf.ncbi.nlm.nih.gov/pubmed/18948620

pubmed

allele

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

• Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4417903

class

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

• Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4417903

表現型アノテーション

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

• abnormal heart development_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0000267I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal muscle electrophysiology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0004145I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• pericardial effusion_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0005312I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal cardiac outflow tract development_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0006126I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• dilated aortic sac_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0012511I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal bulbus cordis morphology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0010568I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal heart morphology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0000266I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• embryonic lethality during organogenesis, complete penetrance_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0011098I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal aortic sac morphology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0012510I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• decreased embryo size_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0001698I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal craniofacial morphology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0000428I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal heart looping_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0000269I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal first pharyngeal arch morphology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0006337I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal cardiovascular system physiology_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0001544I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• small first pharyngeal arch_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0006341I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• abnormal blood circulation_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0002128I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd
• irregular heartbeat_Kcnh2<tm1.1Hjd>/Kcnh2<tm1.1Hjd>
  http://metadb.riken.jp/0001636I129S1Sv129X1SvJC57BL6Kcnh2tm11HjdKcnh2tm11HjdKcnh2tm11Hjd