Phenotypes Associated with This Genotype

Genotype
MGI:3817454

• Allelic Composition: Arid4a^tm1Alb/Arid4a^tm1Alb
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

premature death ( J:141004 )

• mice exhibit increased mortality after 6 months and no mice survives beyond 22 months

reproductive system

ovary hemorrhage ( J:141004 )

♀ • mice exhibit hemorrhage into the ovarian follicles

decreased litter size ( J:141004 )

• female mice mated to wild-type mice exhibit reduced litter size compared to wild-type female mice

hematopoietic system

enlarged spleen ( J:141004 )

• after 5 months

abnormal definitive hematopoiesis ( J:141004 )

abnormal mononuclear cell differentiation ( J:141004 )

• beyond 5 months of age, mice exhibit immature and maturing mononuclear cells in the peripheral blood unlike wild-type mice

abnormal common myeloid progenitor cell morphology ( J:141004 )

• increased in the spleen and bone marrow

extramedullary hematopoiesis ( J:141004 )

• after 5 months, mice exhibit extramedullary hematopoiesis in the liver and spleen

• after 5 months, mice exhibit increased erythropoiesis in the spleen

anemia ( J:141004 )

• at 2 to 5 months of age, mice exhibit mild anemia that becomes severe beyond 5 months of age

increased erythroid progenitor cell number ( J:141004 )

• in mice older than 5 months

decreased erythrocyte cell number ( J:141004 )

• the bone marrow of mice with symptoms of chronic myelomonocytic leukemia (CMML)

increased erythrocyte cell number ( J:141004 )

• in the spleens of mice with symptoms of chronic myelomonocytic leukemia (CMML)

poikilocytosis ( J:141004 )

• in mice older than 5 months

thrombocytopenia ( J:141004 )

• at 2 to 5 months of age, mice exhibit a progressive loss of platelets that becomes severe beyond 5 months of age

decreased leukocyte cell number ( J:141004 )

• at 2 to 5 months of age, mice exhibit mild leukopenia

decreased neutrophil cell number ( J:141004 )

• at 2 to 5 months of age

decreased lymphocyte cell number ( J:141004 )

• at 2 to 5 months of age

decreased B cell number ( J:141004 )

• the bone marrow of mice with symptoms of chronic myelomonocytic leukemia (CMML)

decreased T cell number ( J:141004 )

• in the spleen of mice with symptoms of chronic myelomonocytic leukemia (CMML)

decreased monocyte cell number ( J:141004 )

• beyond 5 months of age

increased leukocyte cell number ( J:141004 )

• spleens mice with symptoms of chronic myelomonocytic leukemia (CMML)

• 12% of mice develop acute myeloid leukemia with a rapid increase in white blood cell count between 12 and 22 months

increased T cell number ( J:141004 )

• the bone marrow of mice with symptoms of chronic myelomonocytic leukemia (CMML)

increased hematopoietic stem cell number ( J:141004 )

• in the bone marrow and spleen

endocrine/exocrine glands

ovary hemorrhage ( J:141004 )

♀ • mice exhibit hemorrhage into the ovarian follicles

liver/biliary system

enlarged liver ( J:141004 )

• after 5 months

neoplasm

increased leukemia incidence ( J:141004 )

• mice exhibit chronic myelomonocytic leukemia (CMML) symptoms

• 12% of mice develop acute myeloid leukemia with a rapid increase in white blood cell count between 12 and 22 months

increased sarcoma incidence ( J:141004 )

• mice with acute myeloid leukemia (AML) also develop myeloid sarcomas in spleens and livers

skeleton

abnormal bone marrow morphology ( J:141004 )

• sick mice exhibit bone marrow with reticulin fibrosis and increased apoptosis compared to wild type mice

• hematopoietic stem cell populations are expanded in the bone marrow compared to in wild-type mice

• the bone marrow of mice with symptoms of chronic myelomonocytic leukemia (CMML) exhibits an increase in T cells and a decreased in erythrocytes and B cells compared to in wild-type mice

myelofibrosis ( J:141004 )

• sick mice exhibit bone marrow with reticulin fibrosis

respiratory system

increased pulmonary respiratory rate ( J:141004 )

• in mice older than 5 months

cardiovascular system

ovary hemorrhage ( J:141004 )

♀ • mice exhibit hemorrhage into the ovarian follicles

behavior/neurological

decreased locomotor activity ( J:141004 )

• in mice older than 5 months

immune system

abnormal mononuclear cell differentiation ( J:141004 )

• beyond 5 months of age, mice exhibit immature and maturing mononuclear cells in the peripheral blood unlike wild-type mice

enlarged spleen ( J:141004 )

• after 5 months

decreased leukocyte cell number ( J:141004 )

• at 2 to 5 months of age, mice exhibit mild leukopenia

decreased neutrophil cell number ( J:141004 )

• at 2 to 5 months of age

decreased lymphocyte cell number ( J:141004 )

• at 2 to 5 months of age

decreased B cell number ( J:141004 )

• the bone marrow of mice with symptoms of chronic myelomonocytic leukemia (CMML)

decreased T cell number ( J:141004 )

• in the spleen of mice with symptoms of chronic myelomonocytic leukemia (CMML)

decreased monocyte cell number ( J:141004 )

• beyond 5 months of age

increased leukocyte cell number ( J:141004 )

• spleens mice with symptoms of chronic myelomonocytic leukemia (CMML)

• 12% of mice develop acute myeloid leukemia with a rapid increase in white blood cell count between 12 and 22 months

increased T cell number ( J:141004 )

• the bone marrow of mice with symptoms of chronic myelomonocytic leukemia (CMML)

integument

ruffled hair ( J:141004 )

• in mice older than 5 months

cellular

abnormal mononuclear cell differentiation ( J:141004 )

• beyond 5 months of age, mice exhibit immature and maturing mononuclear cells in the peripheral blood unlike wild-type mice

growth/size/body

enlarged liver ( J:141004 )

• after 5 months

enlarged spleen ( J:141004 )

• after 5 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute myeloid leukemia		DOID:9119	OMIM:601626	J:141004