Phenotypes Associated with This Genotype

Genotype
MGI:6195067

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

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

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