Ligia A. Papale, et.al., Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice., Human molecular genetics, 2009, 18

http://rdf.ncbi.nlm.nih.gov/pubmed/19254928

Ligia A. Papale, et.al., Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice., Human molecular genetics, 2009, 18

pubmed

allele

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

• Scn8a<8J>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3806790

class

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

• Scn8a<8J>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3806790

表現型アノテーション

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

• abnormal spike wave discharge_Scn8a<8J>/Scn8a<8J>
  http://metadb.riken.jp/0008840IC3HeBFeJC57BL6JScn8a8JScn8a8JScn8a8J
• abnormal locomotor behavior_Scn8a<8J>/Scn8a<8J>
  http://metadb.riken.jp/0001392IC3HeBFeJC57BL6JScn8a8JScn8a8JScn8a8J
• premature death_Scn8a<8J>/Scn8a<8J>
  http://metadb.riken.jp/0002083IC3HeBFeJC57BL6JScn8a8JScn8a8JScn8a8J
• decreased body size_Scn8a<8J>/Scn8a<8J>
  http://metadb.riken.jp/0001265IC3HeBFeJC57BL6JScn8a8JScn8a8JScn8a8J
• abnormal spike wave discharge_Scn8a<8J>/Scn8a<+>
  http://metadb.riken.jp/0008840IC3HeBFeJC57BL6JScn8a8JScn8aScn8aScn8a8J
• abnormal gait_Scn8a<8J>/Scn8a<8J>
  http://metadb.riken.jp/0001406IC3HeBFeJC57BL6JScn8a8JScn8a8JScn8a8J
• abnormal spike wave discharge_Scn8a<med-jo>/Scn8a<+>
  http://metadb.riken.jp/0008840B6D2Scn8amedjoJScn8amedjoScn8aScn8amedjoScn8a
• abnormal spike wave discharge_Scn8a<med>/Scn8a<+>
  http://metadb.riken.jp/0008840C3FeCgScn8amedJScn8amedScn8aScn8amedScn8a
• postnatal lethality_Scn8a<8J>/Scn8a<8J>
  http://metadb.riken.jp/0002082IC3HeBFeJC57BL6JScn8a8JScn8a8JScn8a8J