Phenotypes Associated with This Genotype

Genotype
MGI:6491326

• Allelic Composition: Rab32^{tm1b(KOMP)Wtsi}/Rab32^{tm1b(KOMP)Wtsi}; Rab38^tm1.1Ics/Rab38^tm1.1Ics
• Genetic Background: involves: C57BL/6N * C57BL/6NTac
• Cell Lines: EPD0095_2_C12

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

hematopoietic system

abnormal platelet dense granule morphology ( J:293385 )

• dense granules show an abnormal dense core having a very small, linear, or poorly condensed appearance instead of a typical bulls-eye appearance

• deficiency in dense granule biogenesis is already seen at the megakaryocyte stage in the bone marrow

• however, alpha granules have a normal appearance

decreased platelet ATP level ( J:293385 )

• platelets show a total 75% decrease in ADP and 50% decrease in ATP content, thus the ATP/ADLP ratio is twice that of wild-type mice

decreased platelet ADP level ( J:293385 )

• platelets show a total 75% decrease in ADP and 50% decrease in ATP content, thus the ATP/ADLP ratio is twice that of wild-type mice

decreased platelet dense granule number ( J:293385 )

• dense granule formation in platelets is impaired

• 70% decrease in the total number of dense granules in platelets

decreased platelet serotonin level ( J:293385 )

• dense granule 5-hydroxytryptamine (5-HT) storage is almost abolished in platelets

• however, total platelet factor 4 (PF4), P-selectin, fibrinogen, and VWF levels are normal in platelets

decreased platelet aggregation ( J:293385 )

• platelets under flow form only a layer over the surface with no growth in height, indicating that initial platelet attachment is normal but is followed by a defect in thrombus growth

• -platelets exhibit decreased lysosomal exocytosis

homeostasis/metabolism

decreased platelet ATP level ( J:293385 )

• platelets show a total 75% decrease in ADP and 50% decrease in ATP content, thus the ATP/ADLP ratio is twice that of wild-type mice

decreased platelet serotonin level ( J:293385 )

• dense granule 5-hydroxytryptamine (5-HT) storage is almost abolished in platelets

• however, total platelet factor 4 (PF4), P-selectin, fibrinogen, and VWF levels are normal in platelets

decreased platelet aggregation ( J:293385 )

• platelets under flow form only a layer over the surface with no growth in height, indicating that initial platelet attachment is normal but is followed by a defect in thrombus growth

• -platelets exhibit decreased lysosomal exocytosis

decreased susceptibility to induced thrombosis ( J:293385 )

• mice are resistant to thromboembolism induced by tissue factor administration

• thrombosis resulting from vessel injury is severely impaired

• thrombosis is impaired in a FeCl3-induced injury in the carotid, with no thrombus growth at all

increased bleeding time ( J:293385 )

• mice show an increase in bleeding time in a tail bleeding assay, with no cessation of bleeding after 30 minutes

integument

diluted coat color ( J:293385 )

• mice exhibit severe coat color dilution, presenting a light beige pigmentation

pigmentation

diluted coat color ( J:293385 )

• mice exhibit severe coat color dilution, presenting a light beige pigmentation

decreased eye pigmentation ( J:293385 )

• mice exhibit severe eye dilution, presenting red eyes

respiratory system

abnormal pulmonary acinus morphology ( J:293385 )

• mice show impaired lung alveolar structure

enlarged alveolar lamellar bodies ( J:293385 )

• mice show alveolar type II cells containing enlarged lamellar bodies

thick pulmonary interalveolar septum ( J:293385 )

• mice exhibit lung epithelium damage as evidenced by thickening of alveolar septa

vision/eye

decreased eye pigmentation ( J:293385 )

• mice exhibit severe eye dilution, presenting red eyes

cellular

decreased platelet ATP level ( J:293385 )

• platelets show a total 75% decrease in ADP and 50% decrease in ATP content, thus the ATP/ADLP ratio is twice that of wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome		DOID:3753	OMIM:PS203300	J:293385