Phenotypes Associated with This Genotype

Genotype
MGI:6258657

• Allelic Composition: Vwf^tm1.1Geno/Vwf^tm1.1Geno
• Genetic Background: involves: C57BL/6

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

hematopoietic system

increased hemoglobin content ( J:250145 )

• in the reverse passive Arthus reaction to induce in vivo inflammation, mice show a 4-fold increase in hemoglobin content, revealing blood leakage in the surrounding tissues

thrombocytopenia ( J:250145 )

• platelet count is decreased by 55% and remains decreased for up to 16 months of age

increased mean platelet volume ( J:250145 )

• platelet volume is increased by 44%

• blood smears show presence of larger platelets

abnormal platelet physiology ( J:250145 )

• platelet adhesion to VWF strings is increased, with FeCl3 treated mesenteric venules showing a 45% increase in the number of platelets per string and 134% prolonged sting lifetime

abnormal platelet aggregation ( J:250145 )

• blood smears show presence of platelet aggregates, with mice presenting with increased low- and intermediate-molecular weight multimers and reduced high molecular weight multimers

decreased platelet aggregation ( J:250145 )

• platelets are irresponsive to either thrombin or collagen at low concentrations and show impaired aggregation at high concentrations

homeostasis/metabolism

abnormal platelet physiology ( J:250145 )

• platelet adhesion to VWF strings is increased, with FeCl3 treated mesenteric venules showing a 45% increase in the number of platelets per string and 134% prolonged sting lifetime

abnormal platelet aggregation ( J:250145 )

• blood smears show presence of platelet aggregates, with mice presenting with increased low- and intermediate-molecular weight multimers and reduced high molecular weight multimers

decreased platelet aggregation ( J:250145 )

• platelets are irresponsive to either thrombin or collagen at low concentrations and show impaired aggregation at high concentrations

decreased susceptibility to induced thrombosis ( J:250145 )

• in FeCl3-induced vessel injury, mice show no occlusion of venules or arterioles within 60 min, indicating defective thrombosis

increased bleeding time ( J:250145 )

• severe bleeding is seen in a tail clip-bleeding assay, with no mutant mice stopping bleeding within a 10 minute period

abnormal response to injury ( J:250145 )

• in the reverse passive Arthus reaction to induce in vivo inflammation, myeloperoxidase activity is 25% higher, indicating an increase in leukocyte recruitment at injury site

• in the reverse passive Arthus reaction to induce in vivo inflammation, mice show a 4-fold increase in hemoglobin content, revealing blood leakage in the surrounding tissues

immune system

increased acute inflammation ( J:250145 )

• in the reverse passive Arthus reaction to induce in vivo inflammation, myeloperoxidase activity is 25% higher, indicating an increase in leukocyte recruitment at injury site

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Willebrand's disease 2		DOID:0060574	OMIM:613554	J:250145