Alessandra. Ruggiero, et.al., Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity., Cardiovascular research, 2013, 97

http://rdf.ncbi.nlm.nih.gov/pubmed/22987565

Alessandra. Ruggiero, et.al., Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity., Cardiovascular research, 2013, 97

pubmed

allele

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

• Tg(Myh6-MYOZ2*I246M)#Ajm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5581489
• Tg(Myh6-MYOZ2*S48P)114Ajm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5581488

class

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

• Tg(Myh6-MYOZ2*I246M)#Ajm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5581489
• Tg(Myh6-MYOZ2*S48P)114Ajm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5581488

表現型アノテーション

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

• thick interventricular septum_Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0010724IFVBTgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjm
• thick interventricular septum_Tg(Myh6-MYOZ2*S48P)114Ajm/0
  http://metadb.riken.jp/0010724IFVBTgMyh6MYOZ2S48P114Ajm0TgMyh6MYOZ2S48P114Ajm
• thick ventricular wall_Tg(Myh6-MYOZ2*S48P)114Ajm/0
  http://metadb.riken.jp/0002953IFVBTgMyh6MYOZ2S48P114Ajm0TgMyh6MYOZ2S48P114Ajm
• abnormal Z lines_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0004091I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• cardiac interstitial fibrosis_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0005608I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• cardiac interstitial fibrosis_Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0005608IFVBTgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjm
• thick interventricular septum_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0010724I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• heart left ventricle hypertrophy_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0002625I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• heart left ventricle hypertrophy_Tg(Myh6-MYOZ2*S48P)114Ajm/0
  http://metadb.riken.jp/0002625IFVBTgMyh6MYOZ2S48P114Ajm0TgMyh6MYOZ2S48P114Ajm
• cardiac hypertrophy_Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0001625IFVBTgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjm
• cardiac hypertrophy_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0001625I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• abnormal cardiovascular system physiology_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0001544I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• enlarged myocardial fiber_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0004564I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• cardiac interstitial fibrosis_Tg(Myh6-MYOZ2*S48P)114Ajm/0
  http://metadb.riken.jp/0005608IFVBTgMyh6MYOZ2S48P114Ajm0TgMyh6MYOZ2S48P114Ajm
• enlarged myocardial fiber_Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0004564IFVBTgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjm
• cardiac hypertrophy_Tg(Myh6-MYOZ2*S48P)114Ajm/0
  http://metadb.riken.jp/0001625IFVBTgMyh6MYOZ2S48P114Ajm0TgMyh6MYOZ2S48P114Ajm
• thick ventricular wall_Myoz2<tm1Eno>/Myoz2<+>,Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0002953I129SvFVBNMyoz2tm1EnoMyoz2TgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjmMyoz2tm1EnoMyoz2
• heart left ventricle hypertrophy_Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0002625IFVBTgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjm
• enlarged myocardial fiber_Tg(Myh6-MYOZ2*S48P)114Ajm/0
  http://metadb.riken.jp/0004564IFVBTgMyh6MYOZ2S48P114Ajm0TgMyh6MYOZ2S48P114Ajm
• abnormal cardiovascular system physiology_Tg(Myh6-MYOZ2*I246M)#Ajm/0
  http://metadb.riken.jp/0001544IFVBTgMyh6MYOZ2I246MAjm0TgMyh6MYOZ2I246MAjm