Silvia. Corrochano, et.al., Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis., Brain : a journal of neurology, 2014, 137

http://rdf.ncbi.nlm.nih.gov/pubmed/25348630

Silvia. Corrochano, et.al., Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis., Brain : a journal of neurology, 2014, 137

pubmed

allele

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

• Scn4a<m1Aaa>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5308659

class

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

• Scn4a<m1Aaa>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5308659

表現型アノテーション

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

• abnormal muscle morphology_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0002108IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• centrally nucleated skeletal muscle fibers_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0009404IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• improved glucose tolerance_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0005292IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• increased skeletal muscle fiber size_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0009399IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• decreased circulating leptin level_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0005668IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• abnormal muscle electrophysiology_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0004145IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• perinatal lethality, complete penetrance_Scn4a<m1Aaa>/Scn4a<m1Aaa>
  http://metadb.riken.jp/0011089IBALBcC57BL6JScn4am1AaaScn4am1AaaScn4am1Aaa
• impaired muscle relaxation_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0003157IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• perinatal lethality, complete penetrance_Scn4a<m1Aaa>/Scn4a<tm1.1Ljh>
  http://metadb.riken.jp/0011089I129S4SvJaeBALBcC57BL6JScn4am1AaaScn4atm11LjhScn4atm11LjhScn4am1Aaa
• impaired skeletal muscle contractility_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0002841IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• respiratory distress_Scn4a<m1Aaa>/Scn4a<m1Aaa>
  http://metadb.riken.jp/0001954IBALBcC57BL6JScn4am1AaaScn4am1AaaScn4am1Aaa
• impaired coordination_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0001405IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• abnormal lung volume_Scn4a<m1Aaa>/Scn4a<tm1.1Ljh>
  http://metadb.riken.jp/0001942I129S4SvJaeBALBcC57BL6JScn4am1AaaScn4atm11LjhScn4atm11LjhScn4am1Aaa
• slow postnatal weight gain_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0008489IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• akinesia_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0002690IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• abnormal lung volume_Scn4a<m1Aaa>/Scn4a<m1Aaa>
  http://metadb.riken.jp/0001942IBALBcC57BL6JScn4am1AaaScn4am1AaaScn4am1Aaa
• respiratory distress_Scn4a<m1Aaa>/Scn4a<tm1.1Ljh>
  http://metadb.riken.jp/0001954I129S4SvJaeBALBcC57BL6JScn4am1AaaScn4atm11LjhScn4atm11LjhScn4am1Aaa
• increased energy expenditure_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0004889IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• abnormal muscle fiber morphology_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0004087IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• muscle twitch_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0009046IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• abnormal grip strength_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0001515IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• muscle fatigue_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0003646IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a
• abnormal muscle physiology_Scn4a<m1Aaa>/Scn4a<+>
  http://metadb.riken.jp/0002106IBALBcC57BL6JScn4am1AaaScn4aScn4am1AaaScn4a