abnormal spike wave discharge_Scn8a<8J>/Scn8a<8J>

http://metadb.riken.jp/0008840IC3HeBFeJC57BL6JScn8a8JScn8a8JScn8a8J

abnormal spike wave discharge_Scn8a<8J>/Scn8a<8J>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• sodium channel, voltage-gated, type VIII, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:103169

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Scn8a<8J>/Scn8a<8J>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Scn8a<8J>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: C3HeB/FeJ * C57BL/6J

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal spike wave discharge
  http://purl.obolibrary.org/obo/MP_0008840

文献

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

• 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