Phenotypes Associated with This Genotype

Genotype
MGI:3805720

• Allelic Composition: Gp1bb^tm1Frla/Gp1bb^tm1Frla
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

hematopoietic system

abnormal platelet morphology ( J:135065 )

• discoid platelets have enlarged diameter compared to wild-type

• platelets display 2-fold increase in number of microtubules

thrombocytopenia ( J:135065 )

• platelet counts are reduced by 73%

homeostasis/metabolism

decreased susceptibility to induced thrombosis ( J:135065 )

• platelet adhesion from blood at high shear forces (3000 s^-1) is nearly abolished (98% decrease) relative to wild-type blood; platelet adhesion and aggregation is observed at greatly reduced size compared to wild-type at a shear rate of 1500 s^-1

• in vivo, application of FeCl3 produces stable occlusion in 12.5% of arteries, while 25% show unstable occlusions and 62.5% do not occlude after 30 minutes compared to 75% in wild-type; thrombi are less extensive than wild-type with little sign of degranulation

• laser beam-induced superficial lesions of mesenteric arterioles results in almost no thrombus formation compared to wild-type while thrombi after severe lesions are reduced to only 25% of wild-type at 160 seconds

increased bleeding time ( J:135065 )

• 76% of mice bled for more than 20 minutes compared to 82% of wild-type having bleeding times of <12 minutes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bernard-Soulier syndrome		DOID:2217	OMIM:231200	J:135065