abnormal spike wave discharge_Scn1a<tm1Wac>/Scn1a<+>,Scn8a<med-jo>/Scn8a<+>

http://metadb.riken.jp/0008840I129C57BL6JDBA2WyDiFVBNJScn1atm1WacScn1aScn8amedjoScn8aScn8aScn8amedjoScn1aScn1atm1Wac

abnormal spike wave discharge_Scn1a<tm1Wac>/Scn1a<+>,Scn8a<med-jo>/Scn8a<+>

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 I, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:98246
• 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

• Scn1a<tm1Wac>/Scn1a<+>,Scn8a<med-jo>/Scn8a<+>

アレルシンボル

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

• Scn8a<+>|Scn8a<med-jo>|Scn1a<+>|Scn1a<tm1Wac>

遺伝的背景

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

• involves: 129 * C57BL/6J * DBA/2WyDi * FVB/NJ

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

• Melinda S. Martin, et.al., The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17881658