Phenotypes Associated with This Genotype

Genotype
MGI:3815135

• Allelic Composition: Tg(PML-RARA)556Kog/?
• Genetic Background: involves: FVB/N

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

neoplasm

increased skin papilloma incidence ( J:39327 )

• epidermal papillomatosis

increased acute promyelocytic leukemia incidence ( J:39327 )

• mutants develop acute promyelocytic leukemia between 3 and 9 months of age, with a median age of 174 days

• mixed hematopoiesis of normal bone marrow is completely replaced by leukemic cells, splenic and lymphatic architecture is effaced and leukemia extends throughout the hepatic parenchyma

• both preleukemic state and the leukemia can be transplanted to wild-type mice and the preleukemia progresses to acute promyelocytic leukemia

immune system

abnormal neutrophil differentiation ( J:39327 )

• impaired neutrophil maturation early in life

hematopoietic system

abnormal neutrophil differentiation ( J:39327 )

• impaired neutrophil maturation early in life

anemia ( J:39327 )

thrombocytopenia ( J:39327 )

cardiovascular system

hemorrhage ( J:39327 )

• some leukemic mutants hemorrhage spontaneously

homeostasis/metabolism

abnormal blood coagulation ( J:39327 )

• leukemic mutants are abnormally susceptible to bleeding after injections

abnormal lung thrombosis ( J:39327 )

• some mutants exhibit fibrin thrombi in pulmonary blood vessels but not in other organs

integument

increased skin papilloma incidence ( J:39327 )

• epidermal papillomatosis

cellular

abnormal neutrophil differentiation ( J:39327 )

• impaired neutrophil maturation early in life

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute promyelocytic leukemia		DOID:0060318	OMIM:612376	J:39327