tonic-clonic seizures_Kcnq2<Nmf134>/Kcnq2<+>,Tg(Eno2-Scn2a1*)Q54Mm/0

http://metadb.riken.jp/0003997IC57BL6JSJLJKcnq2Nmf134Kcnq2TgEno2Scn2a1Q54Mm0Kcnq2Kcnq2Nmf134TgEno2Scn2a1Q54Mm

tonic-clonic seizures_Kcnq2<Nmf134>/Kcnq2<+>,Tg(Eno2-Scn2a1*)Q54Mm/0

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
• transgene insertion Q54, Miriam Meisler
  http://metadb.riken.jp/db/mgi_rdf/MGI:3793790

遺伝子型

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

• Kcnq2<Nmf134>/Kcnq2<+>,Tg(Eno2-Scn2a1*)Q54Mm/0

アレルシンボル

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

• Kcnq2<+>|Kcnq2<Nmf134>|Tg(Eno2-Scn2a1*)Q54Mm

遺伝的背景

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

• involves: C57BL/6J * SJL/J

MP annotation

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

• tonic-clonic seizures
  http://purl.obolibrary.org/obo/MP_0003997

文献

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

• Jennifer A. Kearney, et.al., Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2., Human molecular genetics, 2006, 15
  http://rdf.ncbi.nlm.nih.gov/pubmed/16464983