thrombocytopenia_Prf1<tm1Sdz>/Prf1<tm1Sdz>

http://metadb.riken.jp/0003179C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz

thrombocytopenia_Prf1<tm1Sdz>/Prf1<tm1Sdz>

表現型アノテーション

MGI marker

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

• perforin 1 (pore forming protein)
  http://metadb.riken.jp/db/mgi_rdf/MGI:97551

遺伝子型

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

• Prf1<tm1Sdz>/Prf1<tm1Sdz>

アレルシンボル

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

• Prf1<tm1Sdz>

遺伝的背景

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

• C57BL/6-Prf1<tm1Sdz>/J

MP annotation

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

• decreased platelet cell number
  http://purl.obolibrary.org/obo/MP_0003179

文献

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

• Fernando E. Sepulveda, et.al., Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11., Blood, 2013, 121
  http://rdf.ncbi.nlm.nih.gov/pubmed/23160464