Symbol
Name
ID

Prf1
perforin 1 (pore forming protein)
MGI:97551

Phenotype annotations related to immune system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Abnormal natural killer cell physiology	Decreased total leukocyte count	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

increased T cell derived lymphoma incidence

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

Availability

Mouse Genotype

Prf1^m1Btlr/Prf1^m1Btlr

Prf1^tm1Clrk/Prf1^tm1Clrk

Prf1^tm1Sdz/Prf1^tm1Sdz

Prf1^tm1Tsc/Prf1^tm1Tsc

Prf1^tm1Sdz/Prf1⁺

Prf1^tm1Tsc/Prf1⁺

Contributing Projects: 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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