abnormal channel response_Scn11a<tm1Mdba>/Scn11a<tm1.1Ikth>

http://metadb.riken.jp/0003484I129BALBcC57BL6Scn11atm1MdbaScn11atm11IkthScn11atm1MdbaScn11atm11Ikth

abnormal channel response_Scn11a<tm1Mdba>/Scn11a<tm1.1Ikth>

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<tm1Mdba>/Scn11a<tm1.1Ikth>

アレルシンボル

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

• Scn11a<tm1Mdba>|Scn11a<tm1.1Ikth>

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 channel response
  http://purl.obolibrary.org/obo/MP_0003484

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