convulsive seizures_Kcnq2<Nmf134>/Kcnq2<+>,Scn1a<tm1.1Aesc>/Scn1a<+>

http://metadb.riken.jp/0000947I129S6SvEvTac129X1SvJC57BL6JKcnq2Nmf134Kcnq2Scn1atm11AescScn1aKcnq2Kcnq2Nmf134Scn1atm11AescScn1a

convulsive seizures_Kcnq2<Nmf134>/Kcnq2<+>,Scn1a<tm1.1Aesc>/Scn1a<+>

表現型アノテーション

MGI marker

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

• potassium voltage-gated channel, subfamily Q, member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1309503
• sodium channel, voltage-gated, type I, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:98246

遺伝子型

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

• Kcnq2<Nmf134>/Kcnq2<+>,Scn1a<tm1.1Aesc>/Scn1a<+>

アレルシンボル

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

• Kcnq2<+>|Kcnq2<Nmf134>|Scn1a<tm1.1Aesc>|Scn1a<+>

遺伝的背景

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

• involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

MP annotation

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

• convulsive seizures
  http://purl.obolibrary.org/obo/MP_0000947

文献

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

• Nicole A. Hawkins, et.al., Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus., Neurobiology of disease, 2011, 41
  http://rdf.ncbi.nlm.nih.gov/pubmed/21156207