Symbol
Name
ID

Prf1
perforin 1 (pore forming protein)
MGI:97551

Phenotype annotations related to hematopoietic system

Darker colors indicate more annotations

Human Phenotypes

Reduced natural killer cell activity

Bone marrow hypocellularity

Pancytopenia

Aplastic anemia

Anemia

Leukopenia

Hemophagocytosis

Prolonged prothrombin time

Hypofibrinogenemia

Thrombocytopenia

Lymphoma

Splenomegaly

Hepatosplenomegaly

Disease(s) Associated with PRF1

aplastic anemia

familial hemophagocytic lymphohistiocytosis 2

non-Hodgkin lymphoma

Mouse Phenotypes

decreased T cell apoptosis

decreased NK cell degranulation

decreased bone marrow cell number

decreased erythrocyte cell number

decreased mean corpuscular hemoglobin concentration

decreased neutrophil cell number

thrombocytopenia

increased activated T cell number

decreased leukocyte cell number

pancytopenia

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

Availability

Mouse Genotype

Prf1^{tm1.1(KOMP)Vlcg}/Prf1^{tm1.1(KOMP)Vlcg}

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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