Phenotypes Associated with This Genotype

Genotype
MGI:3055194

• Allelic Composition: Rasgrp2^tm1Amg/Rasgrp2^tm1Amg
• Genetic Background: Not Specified

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

hematopoietic system

abnormal neutrophil physiology ( J:122618 )

• neutrophils from homozygous mutant mice exhibit strong defects in Rap1 and beta1 and beta2 integrin activation while maintaining normal calcium flux, degranulation, and ROS generation

impaired neutrophil recruitment ( J:122618 )

• neutrophils from homozygous mutant mice failed to adhere firmly to stimulated venules and to migrate into sites of inflammation

abnormal platelet physiology ( J:92864 )

• platelets are unable to form stable thrombi when stimulated by collagen under flow conditions and mutants are resistant to collagen-induced thrombi mediated mortali

decreased platelet aggregation ( J:92864 , J:122618 )

• aggregation of platelets in response to calcium ionophore, collagen, ADP and a thromboxane A analog is impaired (J:92864)

• deficiency caused complete inhibition of arterial thrombus formation in mice (J:122618)

immune system

abnormal neutrophil physiology ( J:122618 )

• neutrophils from homozygous mutant mice exhibit strong defects in Rap1 and beta1 and beta2 integrin activation while maintaining normal calcium flux, degranulation, and ROS generation

impaired neutrophil recruitment ( J:122618 )

• neutrophils from homozygous mutant mice failed to adhere firmly to stimulated venules and to migrate into sites of inflammation

homeostasis/metabolism

abnormal platelet physiology ( J:92864 )

• platelets are unable to form stable thrombi when stimulated by collagen under flow conditions and mutants are resistant to collagen-induced thrombi mediated mortali

decreased platelet aggregation ( J:92864 , J:122618 )

• aggregation of platelets in response to calcium ionophore, collagen, ADP and a thromboxane A analog is impaired (J:92864)

• deficiency caused complete inhibition of arterial thrombus formation in mice (J:122618)

increased bleeding time ( J:92864 )

• after tail transection mutants bleed for at least 30 minutes compared to less than 8 minutes for wild-type mice

• mutants do not develop spontaneous hemorrhage or anemia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
leukocyte adhesion deficiency 3		DOID:0110912	OMIM:612840	J:122618