Symbol
Name
ID

Prf1
perforin 1 (pore forming protein)
MGI:97551

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Reduced natural killer cell activity

Hyponatremia

Increased total bilirubin

Hypertriglyceridemia

Hypoalbuminemia

Increased circulating ferritin concentration

Hypoproteinemia

Increased CSF protein concentration

Elevated circulating hepatic transaminase concentration

Edema

Generalized edema

Fever

Recurrent fever

Disease(s) Associated with PRF1

familial hemophagocytic lymphohistiocytosis 2

Mouse Phenotypes

abnormal circulating glucose level

increased circulating triglyceride level

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 alanine transaminase level

increased circulating aspartate transaminase level

increased circulating lactate dehydrogenase level

decreased circulating fibrinogen level

decreased body temperature

abnormal body temperature homeostasis

increased physiological sensitivity to xenobiotic

Availability

Mouse Genotype

Prf1^tm1Sdz/Prf1^tm1Sdz

Prf1^tm1Tsc/Prf1^tm1Tsc

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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