Phenotypes Associated with This Genotype

Genotype
MGI:5700318

• Allelic Composition: Hps4^le/Hps4^le; Pde6b^rd1/Pde6b^rd1
• Genetic Background: B6.C3-Pde6b^rd1 Hps4^le/J

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

hematopoietic system

abnormal platelet activation ( J:221384 )

• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation

• agonist-dependent lysosome release in platelets is impaired

• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets

decreased platelet aggregation ( J:221384 )

• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated

homeostasis/metabolism

abnormal platelet activation ( J:221384 )

• platelets show impaired alpha granule content release in response to low-dose thrombin stimulation

• agonist-dependent lysosome release in platelets is impaired

• stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets

decreased platelet aggregation ( J:221384 )

• mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 4		DOID:0060542	OMIM:614073	J:221384