increased interleukin-1 beta secretion_Mefv<tm5.1(MEFV)Chae>/Mefv<tm5.1(MEFV)Chae>,Nlrp3<tm1Tsc>/Nlrp3<tm1Tsc>

http://metadb.riken.jp/0008657I129S6SvEvTacC57BL6Mefvtm51MEFVChaeMefvtm51MEFVChaeNlrp3tm1TscNlrp3tm1TscMefvtm51MEFVChaeNlrp3tm1Tsc

increased interleukin-1 beta secretion_Mefv<tm5.1(MEFV)Chae>/Mefv<tm5.1(MEFV)Chae>,Nlrp3<tm1Tsc>/Nlrp3<tm1Tsc>

表現型アノテーション

MGI marker

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

• Mediterranean fever
  http://metadb.riken.jp/db/mgi_rdf/MGI:1859396
• NLR family, pyrin domain containing 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:2653833

遺伝子型

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

• Mefv<tm5.1(MEFV)Chae>/Mefv<tm5.1(MEFV)Chae>,Nlrp3<tm1Tsc>/Nlrp3<tm1Tsc>

アレルシンボル

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

• Mefv<tm5.1(MEFV)Chae>|Nlrp3<tm1Tsc>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6

MP annotation

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

• increased interleukin-1 beta secretion
  http://purl.obolibrary.org/obo/MP_0008657

文献

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

• Jae Jin. Chae, et.al., Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice., Immunity, 2011, 34
  http://rdf.ncbi.nlm.nih.gov/pubmed/21600797