Phenotypes Associated with This Genotype

Genotype
MGI:5505710

• Allelic Composition: Rab27a^ash/Rab27a^ash
• Genetic Background: C3H/HeSn-Rab27a^ash/J

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

hematopoietic system

abnormal platelet dense granule morphology ( J:77395 )

• Background Sensitivity: the contents of the dense granules in platelets are abnormal as indicated by a lack of flashing upon prolonged exposure to UV light that is seen in controls, indicating that granules are relatively empty, unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J where dense granules look normal

decreased platelet ATP level ( J:77395 )

• Background Sensitivity: platelet-dense granule adenine nucleotides (ATP and ADP) are reduced, with a greater loss of ADP (majority in dense granules) than ATP (majority in the cytoplasm) unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J in which ATP and ADP levels are similar to wild-type mice

decreased platelet ADP level ( J:77395 )

• Background Sensitivity: platelet-dense granule adenine nucleotides (ATP and ADP) are reduced, with a greater loss of ADP (majority in dense granules) than ATP (majority in the cytoplasm) unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J where ATP and ADP levels are similar to wild-type mice

decreased platelet dense granule number ( J:77395 )

• the number of dense granules per platelet is slightly depressed (20%) compared to wild-type control platelets

decreased platelet serotonin level ( J:77395 )

• Background Sensitivity: platelet-dense granule serotonin levels are depressed in platelets compared to wild-type, with levels much lower than on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J

decreased platelet aggregation ( J:77395 )

• at low collagen levels, platelets show impaired (about 20% of normal) aggregation rates and no release of granule ATP

• however at high collagen levels, platelet aggregation occurs normally

abnormal platelet dense granule physiology ( J:77395 )

• at high collagen levels, mice do not show abnormalities in rates of platelet aggregation, however no release of granule ATP occurs as in wild-type platelets

• at low collagen levels, no release of granule ATP occurs

• however, lysosomal secretory rate in platelets is normal

homeostasis/metabolism

decreased platelet ATP level ( J:77395 )

• Background Sensitivity: platelet-dense granule adenine nucleotides (ATP and ADP) are reduced, with a greater loss of ADP (majority in dense granules) than ATP (majority in the cytoplasm) unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J in which ATP and ADP levels are similar to wild-type mice

decreased platelet serotonin level ( J:77395 )

• Background Sensitivity: platelet-dense granule serotonin levels are depressed in platelets compared to wild-type, with levels much lower than on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J

decreased platelet aggregation ( J:77395 )

• at low collagen levels, platelets show impaired (about 20% of normal) aggregation rates and no release of granule ATP

• however at high collagen levels, platelet aggregation occurs normally

abnormal platelet dense granule physiology ( J:77395 )

• at high collagen levels, mice do not show abnormalities in rates of platelet aggregation, however no release of granule ATP occurs as in wild-type platelets

• at low collagen levels, no release of granule ATP occurs

• however, lysosomal secretory rate in platelets is normal

increased bleeding time ( J:77395 )

• Background Sensitivity: increase in bleeding time to more than 15 min which is much longer than on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J or in wild-type controls

cellular

decreased platelet ATP level ( J:77395 )

• Background Sensitivity: platelet-dense granule adenine nucleotides (ATP and ADP) are reduced, with a greater loss of ADP (majority in dense granules) than ATP (majority in the cytoplasm) unlike on an inbred strain (F39) background fixed for unidentified modifiers from C57BL/6J in which ATP and ADP levels are similar to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:77395