Symbol Name ID |
Prf1
perforin 1 (pore forming protein) MGI:97551 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Reduced natural killer cell activity |
Leukopenia |
Hemophagocytosis |
Lymphadenopathy |
Splenomegaly |
Hepatosplenomegaly |
Skin rash |
Infectious encephalitis |
Meningitis |
Disease(s) Associated with PRF1 | |||||||||
familial hemophagocytic lymphohistiocytosis 2 |
Mouse Phenotypes | immune system phenotype |
decreased T cell apoptosis |
decreased NK cell degranulation |
insulitis |
periinsulitis |
decreased neutrophil cell number |
increased activated T cell number |
decreased leukocyte cell number |
increased spleen red pulp amount |
abnormal spleen white pulp morphology |
abnormal leukocyte physiology |
abnormal lymphocyte physiology |
abnormal NK cell physiology |
impaired natural killer cell mediated cytotoxicity |
abnormal cytotoxic T cell physiology |
decreased cytotoxic T cell cytolysis |
abnormal T cell activation |
abnormal macrophage activation involved in immune response |
abnormal circulating cytokine level |
increased circulating interferon-alpha level |
increased circulating interferon-gamma level |
increased circulating interleukin-1 beta level |
increased circulating interleukin-10 level |
increased circulating interleukin-18 level |
increased circulating interleukin-6 level |
increased circulating tumor necrosis factor level |
decreased circulating fibrinogen level |
abnormal lymph node morphology |
lymph node necrosis |
lymph node inflammation |
abnormal cytokine secretion |
decreased interferon-gamma secretion |
increased interferon-gamma secretion |
increased interleukin-10 secretion |
increased tumor necrosis factor secretion |
decreased susceptibility to autoimmune diabetes |
abnormal inflammatory response |
CNS inflammation |
brain inflammation |
liver inflammation |
decreased susceptibility to bacterial infection |
increased susceptibility to bacterial infection |
increased susceptibility to viral infection induced morbidity/mortality |
increased susceptibility to Herpesvirales infection induced morbidity/mortality |
increased susceptibility to Riboviria infection induced morbidity/mortality |
increased susceptibility to parasitic infection |
increased susceptibility to Herpesvirales infection |
increased susceptibility to Picornaviridae infection |
increased susceptibility to Riboviria infection |
increased susceptibility to infection |
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Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||||||||||||||
Prf1m1Btlr/Prf1m1Btlr | |||||||||||||||||||||||||||||||||||||||||||||||||||
Prf1tm1Clrk/Prf1tm1Clrk | * | ||||||||||||||||||||||||||||||||||||||||||||||||||
Prf1tm1Sdz/Prf1tm1Sdz | * | ||||||||||||||||||||||||||||||||||||||||||||||||||
Prf1tm1Tsc/Prf1tm1Tsc | |||||||||||||||||||||||||||||||||||||||||||||||||||
Prf1tm1Sdz/Prf1+ | |||||||||||||||||||||||||||||||||||||||||||||||||||
Prf1tm1Tsc/Prf1+ |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/02/2024 MGI 6.24 |
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