abnormal action potential_Scn11a<tm1.1Ikth>/Scn11a<+>

http://metadb.riken.jp/0005402I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a

abnormal action potential_Scn11a<tm1.1Ikth>/Scn11a<+>

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 XI, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:1345149

遺伝子型

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

• Scn11a<tm1.1Ikth>/Scn11a<+>

アレルシンボル

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

• Scn11a<tm1.1Ikth>|Scn11a<+>

遺伝的背景

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

• involves: 129 * BALB/c * C57BL/6

MP annotation

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

• abnormal action potential
  http://purl.obolibrary.org/obo/MP_0005402

文献

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

• Enrico. Leipold, et.al., A de novo gain-of-function mutation in SCN11A causes loss of pain perception., Nature genetics, 2013, 45
  http://rdf.ncbi.nlm.nih.gov/pubmed/24036948