Phenotypes Associated with This Genotype

Genotype
MGI:5823060

• Allelic Composition: Prkab1^{tm1b(KOMP)Wtsi}/Prkab1^{tm1b(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0033_3_C09

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

growth/size/body

enlarged spleen ( J:236972 )

increased spleen weight ( J:236972 )

• increased spleen weight and spleen/body weight ratio in both sexes

hematopoietic system

enlarged spleen ( J:236972 )

increased spleen weight ( J:236972 )

• increased spleen weight and spleen/body weight ratio in both sexes

extramedullary hematopoiesis ( J:236972 )

• mice exhibit hemolytic anemia with compensatory extramedullary hematopoiesis

hemolytic anemia ( J:236972 )

• regenerative hemolytic anemia

microcytic anemia ( J:236972 )

• mice exhibit microcytic anemia with anisocytosis at 16 weeks of age

• however, anemia is normocytic at 4 and 6 weeks of age

increased erythroid progenitor cell number ( J:236972 , J:236972 )

• splenic erythroid (Ter119)/leukocyte (CD45) ratio is significantly increased in both sexes (J:236972)

♀ • erythroid (Ter119)/leukocyte (CD45) ratio is significantly increased in the bone marrow of female, but not male, mice (J:236972)

increased erythroblast number ( J:236972 )

• percentage of splenic and bone marrow erythroblasts is significantly increased in both sexes

abnormal erythrocyte morphology ( J:236972 )

• erythrocytes exhibit variable appearance, with features of acanthocytes, schistocytes, stomatocytes, and echinocytes

abnormal erythropoiesis ( J:236972 )

• mice show a reactive increase in erythroid hematopoiesis in spleen and, to a lesser extent, in bone marrow in response to hemolytic anemia

decreased erythrocyte cell number ( J:236972 , J:236972 , J:236972 )

• percentage of splenic erythrocytes is significantly decreased in both sexes (J:236972)

♀ • percentage of bone marrow erythrocytes is significantly decreased in female, but not male, mice (J:236972)

♂ • red blood cell count is significantly decreased in males, but not females, at 16 weeks of age (J:236972)

♂ • however, white blood cell count is normal in both sexes (J:236972)

decreased hematocrit ( J:236972 )

• hematocrit is significantly reduced at 16 weeks of age

decreased hemoglobin content ( J:236972 )

• hemoglobin is significantly reduced at 16 weeks of age

decreased mean corpuscular hemoglobin concentration ( J:236972 )

♀ • MCHC is significantly decreased in females, but not males, at 16 weeks of age

increased red blood cell distribution width ( J:236972 )

• red blood cell distribution width is significantly increased in both sexes at 16 weeks of age

anisocytosis ( J:236972 )

• SEM analysis confirmed anisocytosis

acanthocytosis ( J:236972 )

echinocytosis ( J:236972 )

microcytosis ( J:236972 )

• erythrocytes are significantly smaller in both sexes at 16 weeks of age

schistocytosis ( J:236972 )

stomatocytosis ( J:236972 )

increased mean platelet volume ( J:236972 )

• mean platelet volume is significantly increased in both sexes at 16 weeks of age

• however, circulating platelet count is normal

abnormal reticulocyte cell number ( J:236972 , J:236972 )

• percentage of splenic reticulocytes is significantly increased in both sexes (J:236972)

♀ • percentage of bone marrow reticulocytes is significantly increased in female, but not male, mice (J:236972)

reticulocytosis ( J:236972 )

• percentage of circulating reticulocytes is significantly increased in both sexes

increased spleen iron level ( J:236972 )

• significant increase in splenic iron deposits

increased spleen red pulp amount ( J:236972 )

• spleens show an expansion of the peripheral red pulp caused by increased extramedullary hematopoiesis and increased red cell breakdown with hemosiderin in the red pulp

decreased erythrocyte osmotic fragility ( J:236972 )

• erythrocytes exhibit increased osmotic resistance

homeostasis/metabolism

increased spleen iron level ( J:236972 )

• significant increase in splenic iron deposits

increased circulating erythropoietin level ( J:236972 )

• circulating erythropoietin is significantly increased in both sexes

decreased circulating iron level ( J:236972 )

• significant decrease in circulating iron levels in both sexes

increased circulating ferritin level ( J:236972 )

• significant increase in circulating ferritin levels in both sexes

immune system

enlarged spleen ( J:236972 )

increased spleen weight ( J:236972 )

• increased spleen weight and spleen/body weight ratio in both sexes

increased spleen iron level ( J:236972 )

• significant increase in splenic iron deposits

increased spleen red pulp amount ( J:236972 )

• spleens show an expansion of the peripheral red pulp caused by increased extramedullary hematopoiesis and increased red cell breakdown with hemosiderin in the red pulp

skeleton

abnormal bone marrow morphology ( J:236972 )

• bone marrow shows a reduction in adipocytes of the marrow stroma and a mild hematopoietic hyperplasia with a mild increase in erythroid subsets