Phenotypes Associated with This Genotype

Genotype
MGI:5307063

• Allelic Composition: Tg(CTSG-NUMA1/RARA)#Skr/0
• Genetic Background: involves: C57BL/6

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

neoplasm

increased acute promyelocytic leukemia incidence ( J:88103 )

• mutants exhibit myeloproliferation by 8 weeks of age and the myeloproliferation progresses to a nonfatal myeloproliferative disease-like myeloid leukemia with promyelocytic features by 6 months of age, which progresses to a myeloid leukemia with maturation in all mice older than 10 months of age

hematopoietic system

abnormal definitive hematopoiesis ( J:88103 )

• mutants exhibit decreased total viable colony-forming unit, increased fraction of CFU-GM, decreased BFU-E and CFU-GEMM

decreased common myeloid progenitor cell number ( J:88103 )

• mutants exhibit a decrease in CFU-GEMM

increased bone marrow cell number ( J:88103 )

• bone marrow is hypercellular

decreased erythroid progenitor cell number ( J:88103 )

• mutants exhibit a decrease in BFU-E

thrombocytopenia ( J:88103 )

• moderate thrombocytopenia is seen in mutants over 4 months of age

increased leukocyte cell number ( J:88103 )

• all mutants over 4 months of age develop a peripheral blood myeloproliferative disorder, characterized by persistent neutrophilia, with mild leukocytosis, no anemia, and moderate thrombocytopenia, which becomes more severe with time

increased granulocyte number ( J:88103 )

• increase in granulopoiesis in the bone marrow, with a progressive increase in promyelocytes and granulocytes

increased neutrophil cell number ( J:88103 )

• persistent neutrophilia is seen in mice over 4 months of age

abnormal spleen morphology ( J:88103 )

• infiltration of Gr1+, CD11b+, and CD117+ cells in the spleen

enlarged spleen ( J:88103 )

• the oldest leukemic mutants exhibit enlarged spleens

abnormal spleen red pulp morphology ( J:88103 )

• leukemic infiltrates in the red pulp

increased spleen germinal center size ( J:88103 )

increased spleen white pulp amount ( J:88103 )

immune system

increased leukocyte cell number ( J:88103 )

• all mutants over 4 months of age develop a peripheral blood myeloproliferative disorder, characterized by persistent neutrophilia, with mild leukocytosis, no anemia, and moderate thrombocytopenia, which becomes more severe with time

increased granulocyte number ( J:88103 )

• increase in granulopoiesis in the bone marrow, with a progressive increase in promyelocytes and granulocytes

increased neutrophil cell number ( J:88103 )

• persistent neutrophilia is seen in mice over 4 months of age

abnormal spleen morphology ( J:88103 )

• infiltration of Gr1+, CD11b+, and CD117+ cells in the spleen

enlarged spleen ( J:88103 )

• the oldest leukemic mutants exhibit enlarged spleens

abnormal spleen red pulp morphology ( J:88103 )

• leukemic infiltrates in the red pulp

increased spleen germinal center size ( J:88103 )

increased spleen white pulp amount ( J:88103 )

growth/size/body

enlarged spleen ( J:88103 )

• the oldest leukemic mutants exhibit enlarged spleens

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute promyelocytic leukemia		DOID:0060318	OMIM:612376	J:88103