convulsive seizures_Emx1<tm1.1(cre)Ito>/Emx1<+>,Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0

http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6Emx1tm11creItoEmx1Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0Emx1tm11creItoTgSlc32a1cre65KzyEmx1Scn1atm21Kzy

convulsive seizures_Emx1<tm1.1(cre)Ito>/Emx1<+>,Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0

表現型アノテーション

MGI marker

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

• transgene insertion 65, Kazuhiro Yamakawa
  http://metadb.riken.jp/db/mgi_rdf/MGI:5523785
• empty spiracles homeobox 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95387
• 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

• Emx1<tm1.1(cre)Ito>/Emx1<+>,Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0

アレルシンボル

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

• Emx1<tm1.1(cre)Ito>|Tg(Slc32a1-cre)65Kzy|Emx1<+>|Scn1a<tm2.1Kzy>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6

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

• Ikuo. Ogiwara, et.al., Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome., Human molecular genetics, 2013, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/23922229