postnatal lethality, complete penetrance_Scn1a<tm2.2Kzy>/Scn1a<tm2.2Kzy>

http://metadb.riken.jp/0011085I129P2OlaHsdC57BL6FVBNScn1atm22KzyScn1atm22KzyScn1atm22Kzy

postnatal lethality, complete penetrance_Scn1a<tm2.2Kzy>/Scn1a<tm2.2Kzy>

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

遺伝子型

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

• Scn1a<tm2.2Kzy>/Scn1a<tm2.2Kzy>

アレルシンボル

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

• Scn1a<tm2.2Kzy>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6 * FVB/N

MP annotation

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

• complete postnatal lethality
  http://purl.obolibrary.org/obo/MP_0011085

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