Melinda S. Martin, et.al., Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities., The Journal of biological chemistry, 2010, 285

http://rdf.ncbi.nlm.nih.gov/pubmed/20100831

Melinda S. Martin, et.al., Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities., The Journal of biological chemistry, 2010, 285

pubmed

allele

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

• Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4458373

class

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

• Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4458373

表現型アノテーション

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

• weight loss_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0001263I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• impaired ability to fire action potentials_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0002578I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• seizures_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0002064I129X1SvJC57BL6JSJLScn1atm11AescScn1aScn1aScn1atm11Aesc
• abnormal GABA-mediated receptor currents_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0004008I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• tonic seizures_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0002826I129X1SvJC57BL6JSJLScn1atm11AescScn1aScn1aScn1atm11Aesc
• decreased body weight_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0001262I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• tonic seizures_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0002826I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• seizures_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0002064I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• environmentally induced seizures_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0009358I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• environmentally induced seizures_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0009358I129X1SvJC57BL6JSJLScn1atm11AescScn1aScn1aScn1atm11Aesc
• postnatal lethality, complete penetrance_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0011085I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• clonic seizures_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0003996I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• increased susceptibility to pharmacologically induced seizures_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0002906I129X1SvJC57BL6JSJLScn1atm11AescScn1aScn1aScn1atm11Aesc
• maximal tonic hindlimb extension seizures_Scn1a<tm1.1Aesc>/Scn1a<tm1.1Aesc>
  http://metadb.riken.jp/0002194I129X1SvJC57BL6JSJLScn1atm11AescScn1atm11AescScn1atm11Aesc
• abnormal GABA-mediated receptor currents_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0004008I129X1SvJC57BL6JSJLScn1atm11AescScn1aScn1aScn1atm11Aesc
• abnormal spike wave discharge_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0008840I129X1SvJC57BL6JSJLScn1atm11AescScn1aScn1aScn1atm11Aesc
• tonic-clonic seizures_Scn1a<tm1.1Aesc>/Scn1a<+>
  http://metadb.riken.jp/0003997I129X1SvJC57BL6JSJLScn1atm11AescScn1aScn1aScn1atm11Aesc

トランスクリプトームデータ

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

• CD03038
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD03038