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Phenotypes Associated with This Genotype
Genotype
MGI:2653669
Allelic
Composition
Vwftm1Wgr/Vwftm1Wgr
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vwftm1Wgr mutation (1 available); any Vwf mutation (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Spontaneous bleeding events in Vwftm1Wgr/Vwftm1Wgr mice

cardiovascular system
• ~10% of newborn homozygotes displayed spontaneous intra-abdominal bleeding
• in some cases, bleeding was massive and proved fatal
• after the neonatal period, no obvious spontaneous bleeding was observed, and females survived pregnancy and delivery of normal size litters

homeostasis/metabolism
• in homozygotes, the activity level of coagulation FVIII was reduced to 20% of wild-type level (J:49083)
• consistent with a reduction in FVIII, the activated partial thromboplastin time (aPTT) was also prolonged while prothrombin time was not changed (J:49083)
• however, platelet, red cell and white cell counts, hematocrit, and hemoglobin were all within normal range (J:49083)
• after FeCl3 treatment, platelet interaction with the vessel wall is delayed and platelet deposition is 5-fold less than in similarly treated wild-type mice (J:63750)
• after FeCl3 treatment, thrombi fail to occlude blood vessels unlike in similarly treated wild-type mice (J:63750)
• at 10 min after ferric chloride-induced injury, most mutant arterioles (66.6%) showed very few, if any, platelet interactions with the vessel wall, whereas all of wild-type arterioles exhibited either complete occlusion (25%) or numerous platelet interactions with the vessel wall, including formation of thrombi
• following amputation of a tail segment, homozygotes exhibited a significantly prolonged bleeding time relative to wild-type mice (499 33.4 sec versus 69.7 5.2 sec, respectively)
• only 5 of 21 homozygotes managed to control their blood loss without cauterization
• in addition, 2 anesthetized animals that were not cauterized were never able to control their bleeding

digestive/alimentary system
• 7.2% of adult homozygotes displayed the presence of fecal occult blood

hematopoietic system
• at 10 min after ferric chloride-induced injury, most mutant arterioles (66.6%) showed very few, if any, platelet interactions with the vessel wall, whereas all of wild-type arterioles exhibited either complete occlusion (25%) or numerous platelet interactions with the vessel wall, including formation of thrombi

Mouse Models of Human Disease
OMIM ID Ref(s)
Von Willebrand Disease, Type 1; VWD1 193400 J:49083


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory