Phenotypes Associated with This Genotype

Genotype
MGI:3713721

• Allelic Composition: Nr4a1^tm1Jmi/Nr4a1^tm1Jmi; Nr4a3^tm1Omc/Nr4a3^tm1Omc
• Genetic Background: involves: 129S/SvEv * 129S2/SvPas * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:121903 )

• mice fail to thrive and die between 2 - 4 weeks after birth

neoplasm

increased leukemia incidence ( J:121903 )

• acute myeloid leukemia that is rapidly lethal and transplantable

• perivascular infiltrates are seen in nonhematopoietic tissues including the liver and lung

• disseminated myeloid cells are seen in the spleen and lung

hematopoietic system

abnormal thymus morphology ( J:121903 )

• severe disruption of the architecture at 2 - 3 weeks of age

abnormal common myeloid progenitor cell morphology ( J:121903 )

• significant expansion of myeloid progenitors

abnormal leukopoiesis ( J:121903 )

• immature blasts make up as much as 80% of white blood cells

abnormal myelopoiesis ( J:121903 )

• increase in the number of CD11b+ progenitor cells and these cells display a significant increase in the number of cells in the S and G2/M phases of the cell cycle

anemia ( J:121903 )

• at 2 -3 weeks of age

abnormal bone marrow cell number ( J:121903 )

• reduction in the number of lymphoid and erythroid cells and increase in the number of granulocytes

decreased lymphocyte cell number ( J:121903 )

• marked reduction of the number of lymphoid cells in the spleen, bone marrow, and thymus

increased leukocyte cell number ( J:121903 )

• variable incidence of leukocytosis at 2 -3 weeks of age

• however, all homozygotes show an increase in immature/blast myeloid forms in the bone marrow, spleen, and peripheral blood

increased granulocyte number ( J:121903 )

• marked expansion of granulocytes in the bone marrow, spleen, thymus, and lymph nodes

increased eosinophil cell number ( J:121903 )

• variable incidence of eosinophilia at 2 -3 weeks of age

increased neutrophil cell number ( J:121903 )

• variable incidence of eosinophilia at 2 -3 weeks of age

increased hematopoietic stem cell number ( J:121903 )

• 2.6-fold increase in the number of long term hematopoietic stem cells in bone marrow

• however, the number of short term hematopoietic stem cells is not increased

abnormal spleen morphology ( J:121903 )

• severe disruption of the architecture at 2 - 3 weeks of age

enlarged spleen ( J:121903 )

• at 2 -3 weeks of age

growth/size/body

decreased body size ( J:121903 )

enlarged liver ( J:121903 )

• at 2 -3 weeks of age

enlarged spleen ( J:121903 )

• at 2 -3 weeks of age

behavior/neurological

hunched posture ( J:121903 )

liver/biliary system

enlarged liver ( J:121903 )

• at 2 -3 weeks of age

immune system

abnormal thymus morphology ( J:121903 )

• severe disruption of the architecture at 2 - 3 weeks of age

abnormal leukopoiesis ( J:121903 )

• immature blasts make up as much as 80% of white blood cells

abnormal myelopoiesis ( J:121903 )

• increase in the number of CD11b+ progenitor cells and these cells display a significant increase in the number of cells in the S and G2/M phases of the cell cycle

decreased lymphocyte cell number ( J:121903 )

• marked reduction of the number of lymphoid cells in the spleen, bone marrow, and thymus

increased leukocyte cell number ( J:121903 )

• variable incidence of leukocytosis at 2 -3 weeks of age

• however, all homozygotes show an increase in immature/blast myeloid forms in the bone marrow, spleen, and peripheral blood

increased granulocyte number ( J:121903 )

• marked expansion of granulocytes in the bone marrow, spleen, thymus, and lymph nodes

increased eosinophil cell number ( J:121903 )

• variable incidence of eosinophilia at 2 -3 weeks of age

increased neutrophil cell number ( J:121903 )

• variable incidence of eosinophilia at 2 -3 weeks of age

abnormal spleen morphology ( J:121903 )

• severe disruption of the architecture at 2 - 3 weeks of age

enlarged spleen ( J:121903 )

• at 2 -3 weeks of age

enlarged lymph nodes ( J:121903 )

• at 2 -3 weeks of age

integument

ruffled hair ( J:121903 )

endocrine/exocrine glands

abnormal thymus morphology ( J:121903 )

• severe disruption of the architecture at 2 - 3 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute myeloid leukemia		DOID:9119	OMIM:601626	J:121903