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

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

pubmed

allele

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

• Scn1a<tm2.1Kzy>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5523787
• Tg(Slc32a1-cre)65Kzy
  http://metadb.riken.jp/db/mgi_rdf/MGI:5523786
• Scn1a<tm2.2Kzy>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5523788

表現型アノテーション

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

• postnatal lethality_Scn1a<tm2.1Kzy>/Scn1a<+>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0002082I129P2OlaHsdC57BL6Scn1atm21KzyScn1aTgSlc32a1cre65Kzy0Scn1aTgSlc32a1cre65KzyScn1atm21Kzy
• convulsive seizures_Emx1<tm1.1(cre)Ito>/Emx1<+>,Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6Emx1tm11creItoEmx1Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0Emx1tm11creItoTgSlc32a1cre65KzyEmx1Scn1atm21Kzy
• premature death_Emx1<tm1.1(cre)Ito>/Emx1<+>,Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6Emx1tm11creItoEmx1Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0Emx1tm11creItoTgSlc32a1cre65KzyEmx1Scn1atm21Kzy
• convulsive seizures_Scn1a<tm2.1Kzy>/Scn1a<+>,Tg(Pvalb-cre)1Tama/0
  http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6DBAScn1atm21KzyScn1aTgPvalbcre1Tama0Scn1aTgPvalbcre1TamaScn1atm21Kzy
• postnatal lethality_Scn1a<tm2.1Kzy>/Scn1a<+>,Tg(Pvalb-cre)1Tama/0
  http://metadb.riken.jp/0002082I129P2OlaHsdC57BL6DBAScn1atm21KzyScn1aTgPvalbcre1Tama0Scn1aTgPvalbcre1TamaScn1atm21Kzy
• postnatal lethality, complete penetrance_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0011085I129P2OlaHsdC57BL6Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0TgSlc32a1cre65KzyScn1atm21Kzy
• abnormal neocortex morphology_Emx1<tm1.1(cre)Ito>/Emx1<+>,Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>
  http://metadb.riken.jp/0008547I129P2OlaHsdC57BL6Emx1tm11creItoEmx1Scn1atm21KzyScn1atm21KzyScn1atm21KzyEmx1Emx1tm11creIto
• convulsive seizures_Scn1a<tm2.2Kzy>/Scn1a<+>
  http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6FVBNScn1atm22KzyScn1aScn1atm22KzyScn1a
• abnormal hippocampus neuron morphology_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0009939I129P2OlaHsdC57BL6Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0TgSlc32a1cre65KzyScn1atm21Kzy
• ataxia_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Pvalb-cre)1Tama/0
  http://metadb.riken.jp/0001393I129P2OlaHsdC57BL6DBAScn1atm21KzyScn1atm21KzyTgPvalbcre1Tama0Scn1atm21KzyTgPvalbcre1Tama
• abnormal neocortex morphology_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0008547I129P2OlaHsdC57BL6Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0TgSlc32a1cre65KzyScn1atm21Kzy
• abnormal brain wave pattern_Scn1a<tm2.1Kzy>/Scn1a<+>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0004994I129P2OlaHsdC57BL6Scn1atm21KzyScn1aTgSlc32a1cre65Kzy0Scn1aTgSlc32a1cre65KzyScn1atm21Kzy
• abnormal cerebellar molecular layer_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0000889I129P2OlaHsdC57BL6Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0TgSlc32a1cre65KzyScn1atm21Kzy
• ataxia_Scn1a<tm2.2Kzy>/Scn1a<tm2.2Kzy>
  http://metadb.riken.jp/0001393I129P2OlaHsdC57BL6FVBNScn1atm22KzyScn1atm22KzyScn1atm22Kzy
• premature death_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Pvalb-cre)1Tama/0
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6DBAScn1atm21KzyScn1atm21KzyTgPvalbcre1Tama0Scn1atm21KzyTgPvalbcre1Tama
• premature death_Scn1a<tm2.2Kzy>/Scn1a<+>
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6FVBNScn1atm22KzyScn1aScn1atm22KzyScn1a
• weight loss_Scn1a<tm2.2Kzy>/Scn1a<tm2.2Kzy>
  http://metadb.riken.jp/0001263I129P2OlaHsdC57BL6FVBNScn1atm22KzyScn1atm22KzyScn1atm22Kzy
• premature death_Scn1a<tm2.1Kzy>/Scn1a<+>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0002083I129P2OlaHsdC57BL6Scn1atm21KzyScn1aTgSlc32a1cre65Kzy0Scn1aTgSlc32a1cre65KzyScn1atm21Kzy
• hypoactivity_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0001402I129P2OlaHsdC57BL6Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0TgSlc32a1cre65KzyScn1atm21Kzy
• convulsive seizures_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Pvalb-cre)1Tama/0
  http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6DBAScn1atm21KzyScn1atm21KzyTgPvalbcre1Tama0Scn1atm21KzyTgPvalbcre1Tama
• convulsive seizures_Scn1a<tm2.1Kzy>/Scn1a<tm2.1Kzy>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6Scn1atm21KzyScn1atm21KzyTgSlc32a1cre65Kzy0TgSlc32a1cre65KzyScn1atm21Kzy
• postnatal lethality, complete penetrance_Scn1a<tm2.2Kzy>/Scn1a<tm2.2Kzy>
  http://metadb.riken.jp/0011085I129P2OlaHsdC57BL6FVBNScn1atm22KzyScn1atm22KzyScn1atm22Kzy
• convulsive seizures_Scn1a<tm2.2Kzy>/Scn1a<tm2.2Kzy>
  http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6FVBNScn1atm22KzyScn1atm22KzyScn1atm22Kzy
• convulsive seizures_Scn1a<tm2.1Kzy>/Scn1a<+>,Tg(Slc32a1-cre)65Kzy/0
  http://metadb.riken.jp/0000947I129P2OlaHsdC57BL6Scn1atm21KzyScn1aTgSlc32a1cre65Kzy0Scn1aTgSlc32a1cre65KzyScn1atm21Kzy

class

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

• Scn1a<tm2.1Kzy>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5523787
• Tg(Slc32a1-cre)65Kzy
  http://metadb.riken.jp/db/mgi_rdf/MGI:5523786
• Scn1a<tm2.2Kzy>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5523788

article

http://www.w3.org/2000/01/rdf-schema#seeAlso

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article

http://www.w3.org/2000/01/rdf-schema#seeAlso

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