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

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

pubmed

allele

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

• Stx11<tm1.2Ics>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476622
• Stx11<tm1.1Ics>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476624

class

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

• Stx11<tm1.2Ics>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476622
• Stx11<tm1.1Ics>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476624

表現型アノテーション

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

• increased circulating lactate dehydrogenase level_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0011971B6C3SnRab27aashRab27aashRab27aashRab27aash
• increased circulating lactate dehydrogenase level_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0011971IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating interleukin-1 beta level_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0008641C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased circulating tumor necrosis factor level_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0008553C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• lethargy_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0005202B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased body temperature_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0005534IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased susceptibility to viral infection_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0002418B6C3SnRab27aashRab27aashRab27aashRab27aash
• abnormal cytotoxic T cell physiology_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0005078C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased susceptibility to viral infection_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0002418IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating lactate dehydrogenase level_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0011971C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased susceptibility to viral infection_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0002418C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• decreased cytotoxic T cell cytolysis_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0005079C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• decreased body temperature_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0005534C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• decreased erythrocyte cell number_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0002875IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating tumor necrosis factor level_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0008553IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• lethargy_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0005202C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased circulating aspartate transaminase level_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0005343IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating interleukin-6 level_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0008596C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased circulating aspartate transaminase level_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0005343B6C3SnRab27aashRab27aashRab27aashRab27aash
• thrombocytopenia_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0003179B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased NK cell degranulation_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0008791IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating interferon-gamma level_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0008577B6C3SnRab27aashRab27aashRab27aashRab27aash
• thrombocytopenia_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0003179IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• abnormal cytotoxic T cell physiology_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0005078IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating tumor necrosis factor level_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0008553B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased erythrocyte cell number_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0002875C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased circulating interleukin-1 beta level_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0008641IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• weight loss_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0001263C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• abnormal cytotoxic T cell physiology_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0005078B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased neutrophil cell number_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0000222B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased NK cell degranulation_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0008791C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• decreased leukocyte cell number_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0000221IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• decreased leukocyte cell number_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0000221C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• decreased NK cell degranulation_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0008791B6C3SnRab27aashRab27aashRab27aashRab27aash
• weight loss_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0001263B6C3SnRab27aashRab27aashRab27aashRab27aash
• increased circulating interferon-gamma level_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0008577IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• decreased body temperature_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0005534B6C3SnRab27aashRab27aashRab27aashRab27aash
• pancytopenia_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0005152B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased neutrophil cell number_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0000222C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• decreased cytotoxic T cell cytolysis_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0005079IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating aspartate transaminase level_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0005343C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased susceptibility to viral infection induced morbidity/mortality_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0009791C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• hunched posture_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0001505B6C3SnRab27aashRab27aashRab27aashRab27aash
• lethargy_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0005202IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating interferon-gamma level_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0008577C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• increased circulating interleukin-6 level_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0008596B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased neutrophil cell number_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0000222IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• hunched posture_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0001505C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• weight loss_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0001263IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• increased circulating interleukin-6 level_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0008596IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• decreased cytotoxic T cell cytolysis_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0005079B6C3SnRab27aashRab27aashRab27aashRab27aash
• thrombocytopenia_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0003179C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• decreased erythrocyte cell number_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0002875B6C3SnRab27aashRab27aashRab27aashRab27aash
• decreased leukocyte cell number_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0000221B6C3SnRab27aashRab27aashRab27aashRab27aash
• increased circulating interleukin-1 beta level_Rab27a<ash>/Rab27a<ash>
  http://metadb.riken.jp/0008641B6C3SnRab27aashRab27aashRab27aashRab27aash
• pancytopenia_Prf1<tm1Sdz>/Prf1<tm1Sdz>
  http://metadb.riken.jp/0005152C57BL6Prf1tm1SdzJPrf1tm1SdzPrf1tm1SdzPrf1tm1Sdz
• pancytopenia_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0005152IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics
• hunched posture_Stx11<tm1.2Ics>/Stx11<tm1.2Ics>
  http://metadb.riken.jp/0001505IC57BL6NTacStx11tm12IcsStx11tm12IcsStx11tm12Ics