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

Enrico. Leipold, et.al., A de novo gain-of-function mutation in SCN11A causes loss of pain perception., Nature genetics, 2013, 45

pubmed

allele

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

• Scn11a<tm1.1Ikth>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5558025

class

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

• Scn11a<tm1.1Ikth>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5558025

表現型アノテーション

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

• skin lesions_Scn11a<tm1.1Ikth>/Scn11a<+>
  http://metadb.riken.jp/0001212I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a
• abnormal nociception after inflammation_Scn11a<tm1.1Ikth>/Scn11a<+>
  http://metadb.riken.jp/0002736I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a
• abnormal channel response_Scn11a<tm1Mdba>/Scn11a<tm1.1Ikth>
  http://metadb.riken.jp/0003484I129BALBcC57BL6Scn11atm1MdbaScn11atm11IkthScn11atm1MdbaScn11atm11Ikth
• abnormal nervous system electrophysiology_Scn11a<tm1Mdba>/Scn11a<tm1.1Ikth>
  http://metadb.riken.jp/0002272I129BALBcC57BL6Scn11atm1MdbaScn11atm11IkthScn11atm1MdbaScn11atm11Ikth
• abnormal afterhyperpolarization_Scn11a<tm1.1Ikth>/Scn11a<+>
  http://metadb.riken.jp/0003412I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a
• abnormal action potential_Scn11a<tm1Mdba>/Scn11a<tm1Mdba>
  http://metadb.riken.jp/0005402NSScn11atm1MdbaScn11atm1MdbaScn11atm1Mdba
• abnormal nervous system electrophysiology_Scn11a<tm1Mdba>/Scn11a<tm1Mdba>
  http://metadb.riken.jp/0002272NSScn11atm1MdbaScn11atm1MdbaScn11atm1Mdba
• abnormal nervous system electrophysiology_Scn11a<tm1.1Ikth>/Scn11a<+>
  http://metadb.riken.jp/0002272I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a
• abnormal channel response_Scn11a<tm1.1Ikth>/Scn11a<+>
  http://metadb.riken.jp/0003484I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a
• abnormal miniature excitatory postsynaptic currents_Scn11a<tm1.1Ikth>/Scn11a<+>
  http://metadb.riken.jp/0004753I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a
• abnormal action potential_Scn11a<tm1.1Ikth>/Scn11a<+>
  http://metadb.riken.jp/0005402I129BALBcC57BL6Scn11atm11IkthScn11aScn11atm11IkthScn11a