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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pmltm1Ppp
targeted mutation 1, Pier P Pandolfi
MGI:2429949
Summary 6 genotypes


Genotype
MGI:6195075
hm1
Allelic
Composition
Pmltm1Ppp/Pmltm1Ppp
Genetic
Background
FVB.129S7-Pmltm1Ppp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmltm1Ppp mutation (2 available); any Pml mutation (91 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• primary MEFs do not exhibit a defect in nonhomologous end-joining (NHEJ) but show a reduction in the efficiency of the homologous recombination pathway

hematopoietic system
• the number of LSK hematopoietic stem and progenitor cells is increased
• acceleration of cell cycle progression in LSK hematopoietic stem cells

homeostasis/metabolism
• primary MEFs do not exhibit a defect in nonhomologous end-joining (NHEJ) but show a reduction in the efficiency of the homologous recombination pathway




Genotype
MGI:3041145
hm2
Allelic
Composition
Pmltm1Ppp/Pmltm1Ppp
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmltm1Ppp mutation (2 available); any Pml mutation (91 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• although there was no increase in spontaneous tumors, possibly due to the very high susceptibility to infection, levels of induced tumors were higher
• about 50% of induced tumors are T and B cell lymphomas

cellular
• increased proliferation of embryo fibroblasts in culture
• S phase population of cells is increased while G0/G1 population is decreased

hematopoietic system
• overall reduction of circulating myelocytes
• also reduced in spleen, lymph nodes, thymus and bone marrow
• marked reduction of circulating granulocytes

immune system
• overall reduction of circulating myelocytes
• also reduced in spleen, lymph nodes, thymus and bone marrow
• marked reduction of circulating granulocytes
• extreme susceptibility to botryomycotic infections




Genotype
MGI:7485800
cx3
Allelic
Composition
Pmltm1Ppp/Pml+
Trp53tm3.1Glo/Trp53tm3.1Glo
Genetic
Background
B6.129S7(Cg)-Pmltm1Ppp Trp53tm3.1Glo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmltm1Ppp mutation (2 available); any Pml mutation (91 available)
Trp53tm3.1Glo mutation (0 available); any Trp53 mutation (232 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean survival of male mice is 150 days, i.e., not significantly different from that in males homozygous for Trp53tm3.1Glo alone (164.5 days)
• only 12% of females are born, indicating a severe reduction in female survival




Genotype
MGI:7485803
cx4
Allelic
Composition
Pmltm1Ppp/Pmltm1Ppp
Trp53tm3.1Glo/Trp53tm3.1Glo
Genetic
Background
B6.129S7(Cg)-Pmltm1Ppp Trp53tm3.1Glo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmltm1Ppp mutation (2 available); any Pml mutation (91 available)
Trp53tm3.1Glo mutation (0 available); any Trp53 mutation (232 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean survival of male mice is 156.5 days i.e., not significantly different from that in males homozygous for Trp53tm3.1Glo alone (164.5 days)
• only 9% of females are born, indicating a severe reduction in female survival




Genotype
MGI:7485831
cx5
Allelic
Composition
Pmltm1Ppp/Pml+
Trp53tm3.1Glo/Trp53+
Genetic
Background
B6.129S7(Cg)-Pmltm1Ppp Trp53tm3.1Glo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmltm1Ppp mutation (2 available); any Pml mutation (91 available)
Trp53tm3.1Glo mutation (0 available); any Trp53 mutation (232 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median survival for the combined population of both males and females is 504 days, i.e., similar to that of mice heterozygous for Trp53 tm3.1Glo alone (499 days)
• median survival is 539 days for male mice and 488 days for female mice, indicating that loss of a single Pml allele does not reduce the mean survival of either male or female Trp53 tm3.1Glo heterozygotes
• average survival of male mice that present with soft tissue sarcomas (42%) is 443 days

neoplasm
• 43% of mice develop lymphomas (when expressed as a % of tumor type); 14% of mice develop two tumor types, lymphomas and sarcomas
• 38% of mice exhibit lymphomas when tumor incidence is evaluated per mouse, including those that succumb to EMH, and expressed as a % disease/total number of mice
• when tumors are segregated by gender, 33% of males and 42% of females exhibit lymphomas (expressed as a % disease/total number of mice)
• ~20% of lymphoid tumors are T-cell lymphomas
• immunophenotyping of lymphocytes from terminally resected tumors showed that ~80% of lymphoid tumors are B-cell lymphomas
• 5% of mice develop carcinomas (when expressed as a % of tumor type) (J:317504)
• 4% of mice exhibit carcinomas (when expressed as a % disease/total number of mice) (J:317504)
• when tumors are segregated by gender, 0% of males and 8% of females exhibit carcinomas (expressed as a % disease/total number of mice) (J:317504)
• 52% of mice develop sarcomas (when expressed as a % of tumor type); 14% of mice develop two tumor types, lymphomas and sarcomas
• 46% of mice exhibit sarcomas (when expressed as a % disease/total number of mice)
• when tumors are segregated by gender, 42% of males and 17% of females exhibit soft-tissue sarcomas (expressed as a % disease/total number of mice)
• when tumors are segregated by gender, 8% of males and 25% of females exhibit osteosarcomas (expressed as a % disease/total number of mice)

hematopoietic system
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone
• 33% mice exhibit extramedullary hematopoiesis (EMH)
• when segregated by gender, 33% of males and 33% of females exhibit EMH

immune system
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone

liver/biliary system
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone

growth/size/body
• average body weight is significantly lower than that in C57BL/6 wild-type controls
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone

skeleton
• when tumors are segregated by gender, 8% of males and 25% of females exhibit osteosarcomas (expressed as a % disease/total number of mice)

endocrine/exocrine glands
• ~20% of lymphoid tumors are T-cell lymphomas




Genotype
MGI:7485838
cx6
Allelic
Composition
Pmltm1Ppp/Pmltm1Ppp
Trp53tm3.1Glo/Trp53+
Genetic
Background
B6.129S7(Cg)-Pmltm1Ppp Trp53tm3.1Glo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pmltm1Ppp mutation (2 available); any Pml mutation (91 available)
Trp53tm3.1Glo mutation (0 available); any Trp53 mutation (232 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median survival for the combined population of both males and females is 448 days, i.e., ~50 days shorter than in mice heterozygous for Trp53 tm3.1Glo alone (499 days) and in mice heterozygous for both Trp53 tm3.1Glo and Pmltm1Ppp (504 days) (J:317504)
• strikingly, median survival is 414 days for male mice, i.e., >100 days shorter than in males heterozygous for Trp53 tm3.1Glo alone (515 days) and in males heterozygous for both Trp53 tm3.1Glo and Pmltm1Ppp (539 days) (J:317504)
• average survival of male mice with soft tissue sarcomas (44%) is 380 days, i.e., even shorter than in males heterozygous for both Trp53 tm3.1Glo and Pmltm1Ppp (443 days) which develop soft tissue sarcomas with a similar frequency (42%) (J:317504)
• however, median survival for female mice is 485 days, i.e., not significantly different from that in males heterozygous for Trp53 tm3.1Glo alone (515 days) (J:317504)

neoplasm
• 36% of mice develop lymphomas (when expressed as a % of tumor type); 18% of mice develop two tumor types, lymphomas and sarcomas
• 44% of mice exhibit lymphomas when tumor incidence is evaluated per mouse and expressed as a % disease/total number of mice
• when tumors are segregated by gender, 44% of males and 44% of females exhibit lymphomas (expressed as a % disease/total number of mice)
• ~40% of lymphoid tumors are T-cell lymphomas
• immunophenotyping of lymphocytes from terminally resected tumors showed that ~60% of lymphoid tumors are B-cell lymphomas
• 5% of mice develop carcinomas (when expressed as a % of tumor type) (J:317504)
• 6% of mice exhibit carcinomas (when expressed as a % disease/total number of mice) (J:317504)
• when tumors are segregated by gender, 0% of males and 11% of females exhibit carcinomas (expressed as a % disease/total number of mice) (J:317504)
• 59% of mice develop sarcomas (when expressed as a % of tumor type); 18% of mice develop two tumor types, lymphomas and sarcomas
• 72% of mice exhibit sarcomas (when expressed as a % disease/total number of mice)
• when tumors are segregated by gender, 44% of males and 11% of females exhibit soft-tissue sarcomas (expressed as a % disease/total number of mice), indicating that males lacking PML succumb to aggressive soft tissue sarcomas more frequently than females
• when tumors are segregated by gender, 33% of males and 56% of females exhibit osteosarcomas (expressed as a % disease/total number of mice)
• although osteosarcomas are proportionately more abundant in female mice, survival latency is not significantly altered

immune system
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone

liver/biliary system
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone

endocrine/exocrine glands
• ~40% of lymphoid tumors are T-cell lymphomas

skeleton
• when tumors are segregated by gender, 33% of males and 56% of females exhibit osteosarcomas (expressed as a % disease/total number of mice)
• although osteosarcomas are proportionately more abundant in female mice, survival latency is not significantly altered

hematopoietic system
N
• zero of 18 mice (0%) exhibit extramedullary hematopoiesis (EMH)
• when segregated by gender, neither male nor female mice exhibit EMH
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone

growth/size/body
N
• average body weight is not significantly different from that in C57BL/6 wild-type controls
• mice exhibit less severe hepatosplenomegaly than mice heterozygous for Trp53 tm3.1Glo alone





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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory