Phenotypes Associated with This Genotype

Genotype
MGI:3809472

• Allelic Composition: Cebpa^tm8.1Nerl/Cebpa^tm8.1Nerl
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6

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

mortality/aging

premature death ( J:136134 )

• mice die after 9 to 14 months

postnatal lethality, incomplete penetrance ( J:136134 )

• fewer than expected mice survive to weaning

hematopoietic system

enlarged spleen ( J:136134 )

abnormal definitive hematopoiesis ( J:136134 )

• mice exhibit bone marrow failure with the replacement of normal hematopoietic cells with Mac1+Gr1^lo and high myeloid blasts counts

abnormal common myeloid progenitor cell morphology ( J:136134 )

• bone marrow myeloid progenitor cells exhibit an increase in proliferative capacity compared to in wild-type mice

• myeloid progenitor cells exhibit increased self-renewal capacity compared to wild-type cells

extramedullary hematopoiesis ( J:136134 )

• mice exhibit ectopic myelopoiesis

decreased hematocrit ( J:136134 )

• in late stages

abnormal leukocyte morphology ( J:136134 )

• in late stages, mice exhibit decreased leukocyte counts

abnormal myeloid leukocyte morphology ( J:136134 )

• at 2 months of age, peripheral blood contains lower numbers of myeloid cells compared to in wild-type mice

abnormal granulocyte morphology ( J:136134 )

• mice exhibit a progressive block in granulocyte differentiation at an intermediate stage hyperproliferation

decreased granulocyte number ( J:136134 )

• at 2 months of age, mice exhibit neutropenic bone marrow, low numbers of Mac1+Gr1+ cells and few granulocytes

decreased neutrophil cell number ( J:136134 )

• at 2 months of age

decreased monocyte cell number ( J:136134 )

neoplasm

increased leukemia incidence ( J:136134 )

• mice develop acute myeloid leukemia

• normal hematopoiesis is displaced by malignant myeloid cells

• malignant cells are transplantable in the absence of phenotypic hematopoietic stem cells

• the only karyotype abnormality observed in tumor cells is the loss of the Y chromosome

liver/biliary system

liver inflammation ( J:136134 )

• mice exhibit massive hematopoietic infiltrates with remaining hepatocytes scattered compared to in wild-type mice

decreased hepatocyte number ( J:136134 )

liver failure ( J:136134 )

homeostasis/metabolism

hypoglycemia ( J:136134 )

• at birth

immune system

enlarged spleen ( J:136134 )

abnormal leukocyte morphology ( J:136134 )

• in late stages, mice exhibit decreased leukocyte counts

abnormal myeloid leukocyte morphology ( J:136134 )

• at 2 months of age, peripheral blood contains lower numbers of myeloid cells compared to in wild-type mice

abnormal granulocyte morphology ( J:136134 )

• mice exhibit a progressive block in granulocyte differentiation at an intermediate stage hyperproliferation

decreased granulocyte number ( J:136134 )

• at 2 months of age, mice exhibit neutropenic bone marrow, low numbers of Mac1+Gr1+ cells and few granulocytes

decreased neutrophil cell number ( J:136134 )

• at 2 months of age

decreased monocyte cell number ( J:136134 )

liver inflammation ( J:136134 )

• mice exhibit massive hematopoietic infiltrates with remaining hepatocytes scattered compared to in wild-type mice

growth/size/body

enlarged spleen ( J:136134 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute myeloid leukemia		DOID:9119	OMIM:601626	J:136134