Gianina. Ravenscroft, et.al., Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies., Brain : a journal of neurology, 2011, 134

http://rdf.ncbi.nlm.nih.gov/pubmed/21303860

Gianina. Ravenscroft, et.al., Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies., Brain : a journal of neurology, 2011, 134

pubmed

allele

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

• Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/db/mgi_rdf/MGI:5566909

表現型アノテーション

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

• decreased body weight_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0001262IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• abnormal Z lines_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0004091IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1
• muscle weakness_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0000747IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• premature death_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0002083IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1
• reduced fertility_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0001921IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1
• decreased exploration in new environment_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0001417IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• increased variability of skeletal muscle fiber size_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0009403IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1
• impaired skeletal muscle contractility_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0002841IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• abnormal sarcomere morphology_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0004090IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• hindlimb paralysis_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0000755IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1
• abnormal skeletal muscle morphology_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0000759IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1
• impaired coordination_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0001405IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• abnormal Z lines_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0004091IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• abnormal skeletal muscle morphology_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0000759IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• hypoactivity_Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0001402IC57BL6CBATgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjno
• decreased body weight_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0001262IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1
• abnormal muscle fiber morphology_Acta1<tm1Jll>/Acta1<+>,Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/0004087IC57BL6CBAActa1tm1JllActa1TgACTA1D286GKjnoTgACTA1D286GKjnoTgACTA1D286GKjnoActa1tm1JllActa1

class

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

• Tg(ACTA1*D286G)#Kjno
  http://metadb.riken.jp/db/mgi_rdf/MGI:5566909