increased interleukin-1 beta secretion_Il1r1<tm1Roml>/Il1r1<tm1Roml>,Mefv<tm5.1(MEFV)Chae>/Mefv<tm5.1(MEFV)Chae>

http://metadb.riken.jp/0008657I129S1Sv129S6SvEvTacC57BL6Il1r1tm1RomlIl1r1tm1RomlMefvtm51MEFVChaeMefvtm51MEFVChaeIl1r1tm1RomlMefvtm51MEFVChae

increased interleukin-1 beta secretion_Il1r1<tm1Roml>/Il1r1<tm1Roml>,Mefv<tm5.1(MEFV)Chae>/Mefv<tm5.1(MEFV)Chae>

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
• interleukin 1 receptor, type I
  http://metadb.riken.jp/db/mgi_rdf/MGI:96545

遺伝子型

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

• Il1r1<tm1Roml>/Il1r1<tm1Roml>,Mefv<tm5.1(MEFV)Chae>/Mefv<tm5.1(MEFV)Chae>

アレルシンボル

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

• Il1r1<tm1Roml>|Mefv<tm5.1(MEFV)Chae>

遺伝的背景

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

• involves: 129S1/Sv * 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