Phenotypes Associated with This Genotype

Genotype
MGI:6258654

• Allelic Composition: Vwf^tm1.1Geno/Vwf⁺
• 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 induced in vivo inflammation, mice show a 1.7-fold increase in hemoglobin content, revealing blood leakage in the surrounding tissues

thrombocytopenia ( J:250145 )

• platelet counts are modestly, but significantly, reduced

increased mean platelet volume ( J:250145 )

• platelet volumes are slightly increased

abnormal platelet physiology ( J:250145 )

• platelet adhesion to VWF strings is increased, with FeCl3 treated mesenteric venules showing a 40% increase in the number of platelets per string and 47% 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 )

• platelet aggregation is reduced at low thrombin and collagen concentrations

homeostasis/metabolism

abnormal platelet physiology ( J:250145 )

• platelet adhesion to VWF strings is increased, with FeCl3 treated mesenteric venules showing a 40% increase in the number of platelets per string and 47% 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 )

• platelet aggregation is reduced at low thrombin and collagen concentrations

increased bleeding time ( J:250145 )

• 14 of 31 mice do not stop bleeding within 10 minutes in the tail clip-bleeding assay and the remaining mice show prolonged bleeding times compared to wild-type mice

• however, in FeCl3-induced vessel injury, mice show normal occlusion times in venules and arterioles

abnormal response to injury ( J:250145 )

• in the reverse passive Arthus reaction to induced in vivo inflammation, mice show a 1.7-fold increase in hemoglobin content, revealing blood leakage in the surrounding tissues

• in the reverse passive Arthus reaction to induce in vivo inflammation, myeloperoxidase activity is 23% higher, indicating an increase in leukocyte recruitment at injury site

immune system

increased acute inflammation ( J:250145 )

• in the reverse passive Arthus reaction to induce in vivo inflammation, myeloperoxidase activity is 23% 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