Phenotypes Associated with This Genotype

Genotype
MGI:3606957

• Allelic Composition: Adamts13^tm1Dgi/Adamts13^tm1Dgi
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CASA/Rk

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

mortality/aging

mortality/aging ( J:101752 )

N • Background Sensitivity: associated phenotypes appear after crossing to CASA/Rk mice

premature death ( J:101752 )

• exhibit a significant decrease in survival than wildtype

hematopoietic system

hematopoietic system phenotype ( J:101752 )

N • Background Sensitivity: associated phenotypes appear after crossing to CASA/Rk mice

abnormal erythrocyte morphology ( J:101752 )

• peripheral blood smear shows schistocytes and fragmented red blood cells

thrombocytopenia ( J:101752 )

• decrease in average platelet count in peripheral blood

abnormal platelet physiology ( J:101752 )

• platelets show significantly prolonged adhesion to endothelial cells

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:101752 )

N • Background Sensitivity: associated phenotypes appear after crossing to CASA/Rk mice

abnormal platelet physiology ( J:101752 )

• platelets show significantly prolonged adhesion to endothelial cells

increased circulating von Willebrand factor level ( J:101752 )

• 40-50% increase in mean plasma von Willebrand Factor (vWF) level

• appearance of ultra-long vWF similar to the pattern observed in human thrombotic thrombocytopenic purpura (TPP)

abnormal thrombosis ( J:101752 )

• exhibit widespread vWF-rich and fibrin-poor hyaline thrombi in the small vessels of multiple organs

immune system

immune system phenotype ( J:101752 )

N • Background Sensitivity: associated phenotypes appear after crossing to CASA/Rk mice

increased susceptibility to bacterial infection ( J:101752 )

• shiga toxin injection causes increased mortality, thrombocytopenia, microangiopathic hemolytic anemia and widespread vWF-rich and fibrin-poor hyaline thrombi in the small vessels of multiple organs and results in a syndrome closely resembling human thrombotic thrombocytopenic purpura