Ivan. Nemazanyy, et.al., Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease., EMBO molecular medicine, 2013, 5

http://rdf.ncbi.nlm.nih.gov/pubmed/23630012

Ivan. Nemazanyy, et.al., Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease., EMBO molecular medicine, 2013, 5

pubmed

allele

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

• Pik3r4<tm1.1Mpnd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5499157
• Pik3r4<tm1.2Mpnd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5499158

表現型アノテーション

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

• centrally nucleated skeletal muscle fibers_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0009404I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• embryonic lethality, complete penetrance_Pik3r4<tm1.2Mpnd>/Pik3r4<tm1.2Mpnd>
  http://metadb.riken.jp/0011092I129S2SvPasBALBcJC57BL6NPik3r4tm12MpndPik3r4tm12MpndPik3r4tm12Mpnd
• skeletal muscle degeneration_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0009415I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• myopathy_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0000751I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• skeletal muscle fiber necrosis_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0009414I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• increased skeletal muscle glycogen level_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0010401I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• abnormal autophagy_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0008260I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• muscle weakness_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0000747I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• abnormal sarcolemma morphology_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0004121I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• abnormal autophagy_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>
  http://metadb.riken.jp/0008260I129S2SvPasC57BL6NPik3r4tm11MpndPik3r4tm11MpndPik3r4tm11Mpnd
• no abnormal phenotype detected_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>
  http://metadb.riken.jp/0002169I129S2SvPasC57BL6NPik3r4tm11MpndPik3r4tm11MpndPik3r4tm11Mpnd
• myositis_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0004510I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd
• increased circulating creatine kinase level_Pik3r4<tm1.1Mpnd>/Pik3r4<tm1.1Mpnd>,Tg(ACTA1-cre)79Jme/0
  http://metadb.riken.jp/0010090I129S2SvPasC57BL6JC57BL6NSJLPik3r4tm11MpndPik3r4tm11MpndTgACTA1cre79Jme0TgACTA1cre79JmePik3r4tm11Mpnd

class

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

• Pik3r4<tm1.1Mpnd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5499157
• Pik3r4<tm1.2Mpnd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5499158