Phenotypes associated with this allele

• Allele Symbol: Pml^tm1.1Ews
• Allele Name: targeted mutation 1.1, Eva W Stratford
• Allele ID: MGI:6195046
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pml^tm1.1Ews/Pml^tm1.1Ews	FVB.129P2-Pml^tm1.1Ews	MGI:6195061
hm2	Pml^tm1.1Ews/Pml^tm1.1Ews	involves: 129 * 129P2/OlaHsd	MGI:6195057
cx3	Pml^tm1.1Ews/Pml^tm1.1Ews Tg(PML-RARA)556Kog/0	FVB.Cg-Pml^tm1.1Ews Tg(PML-RARA)556Kog	MGI:6195067

Genotype
MGI:6195061

hm1

• Allelic Composition: Pml^tm1.1Ews/Pml^tm1.1Ews
• Genetic Background: FVB.129P2-Pml^tm1.1Ews

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal PML bodies ( J:262172 )

• nuclear body dispersion/disruption

elevated level of mitotic sister chromatid exchange ( J:262172 )

• MEFs exhibit a higher number of spontaneous sister chromatid exchange

increased cellular sensitivity to ionizing radiation ( J:262172 )

• MEFs show a greater number of chromosome aberrations in response to ionizing radiation

abnormal double-strand DNA break repair ( J:262172 )

• MEFs exhibit defects in DNA double strand break repair, with a defect in nonhomologous end-joining (NHEJ) and a reduction in the efficiency of homologous recombination

hematopoietic system

increased hematopoietic stem cell number ( J:262172 )

• the number of LSK hematopoietic stem and progenitor cells is increased to a greater extent than in Pml^tm1Ppp homozygotes

• acceleration of cell cycle progression in LSK hematopoietic stem cells

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:262172 )

• MEFs exhibit defects in DNA double strand break repair, with a defect in nonhomologous end-joining (NHEJ) and a reduction in the efficiency of homologous recombination

neoplasm

neoplasm ( J:262172 )

N • Background Sensitivity: mice are developmentally normal and do not die of spontaneous leukemias or tumors unlike mice on a 129 background that develop lymphoma

Genotype
MGI:6195057

hm2

• Allelic Composition: Pml^tm1.1Ews/Pml^tm1.1Ews
• Genetic Background: involves: 129 * 129P2/OlaHsd

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:262172 )

• Background Sensitivity: mice develop T- and B-cell lymphomas arising after 12 months of age unlike on an FVB/N background in which mice are tumor free

neoplasm

increased T cell derived lymphoma incidence ( J:262172 )

• Background Sensitivity: mice develop T- and B-cell lymphomas arising after 12 months of age unlike on an FVB/N background in which mice are tumor free

increased B cell derived lymphoma incidence ( J:262172 )

• Background Sensitivity: mice develop T- and B-cell lymphomas arising after 12 months of age unlike on an FVB/N background in which mice are tumor free

immune system

increased T cell derived lymphoma incidence ( J:262172 )

• Background Sensitivity: mice develop T- and B-cell lymphomas arising after 12 months of age unlike on an FVB/N background in which mice are tumor free

hematopoietic system

increased T cell derived lymphoma incidence ( J:262172 )

• Background Sensitivity: mice develop T- and B-cell lymphomas arising after 12 months of age unlike on an FVB/N background in which mice are tumor free

Genotype
MGI:6195067

cx3

• Allelic Composition: Pml^tm1.1Ews/Pml^tm1.1Ews; Tg(PML-RARA)556Kog/0
• Genetic Background: FVB.Cg-Pml^tm1.1Ews Tg(PML-RARA)556Kog

cellular

abnormal double-strand DNA break repair ( J:262172 )

• primary MEFs show a defect in nonhomologous end-joining (NHEJ)

hematopoietic system

enlarged spleen ( J:262172 )

anemia ( J:262172 )

thrombocytosis ( J:262172 )

increased leukocyte cell number ( J:262172 )

• leukemia is characterized by hyperleukocytosis

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:262172 )

• primary MEFs show a defect in nonhomologous end-joining (NHEJ)

immune system

enlarged spleen ( J:262172 )

increased leukocyte cell number ( J:262172 )

• leukemia is characterized by hyperleukocytosis

neoplasm

increased acute promyelocytic leukemia incidence ( J:262172 )

• mice develop acute promyelocytic leukemia spontaneously with a frequency of 13.8% at 18 months of age

• leukemias are characterized by hyperleukocytosis, anemia, and thrombocytosis

growth/size/body

enlarged spleen ( J:262172 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute promyelocytic leukemia		DOID:0060318	OMIM:612376	J:262172