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Targeted Allele Detail
Symbol: Prf1tm1Sdz
Name: perforin 1 (pore forming protein); targeted mutation 1, Sandoz Pharmaceuticals
MGI ID: MGI:1857235
Synonyms: P0, perf-, perforin-, perforin 0, Pfn-, pfp-, pfpKO, Pfptm1Sdz, pko, Prf-, Prf1-, prf1tm1, Prf1tm/Sdz
Gene: Prf1  Location: Chr10:61297836-61304263 bp, + strand  Genetic Position: Chr10, 32.18 cM
Germline Transmission:  Earliest citation of germline transmission: J:17986
Parent Cell Line:  BL/6-III (ES Cell)
Strain of Origin:  C57BL/6J
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA neomycin selection cassette was inserted into exon 3. RT-PCR analysis on RNA derived from homozygous mice demonstrated that an abnormal transcript was produced from this allele. However, immunocytochemistry experiments on activated spleen cells derived from homozygous mice confirmed that no detectable protein was made from this allele. (J:17986, J:96542)
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 8 strains available      Cell Lines: 0 lines available
Carrying any Prf1 Mutation:  14 strains or lines available
Phenotypic Similarity to Human Syndrome: hemophagocytic lymphohistiocytosis in mutants infected with lymphocytic choriomeningitic virus (J:92260)

Original:  J:17986 Kagi D, et al., Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice [see comments]. Nature. 1994 May 5;369(6475):31-7
All:  254 reference(s)

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MGI 6.01
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