Phenotypes Associated with This Genotype

Genotype
MGI:3586967

• Allelic Composition: Hps1^ep/Hps1^ep
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

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

Eye tissue and skin melanocytes of wild-type and Hps1^ep/Hps1^ep mice

vision/eye

abnormal choroid pigmentation ( J:42484 )

• abnormally large melanosomes in choroidal melanocytes

abnormal ciliary body pigmentation ( J:6064 )

• reduced

abnormal retina morphology ( J:6064 )

• reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve

respiratory system

enlarged alveolar lamellar bodies ( J:85431 )

• type II epithelial cells with enlarged lamellar bodies

hematopoietic system

decreased platelet ATP level ( J:7327 )

• ATP levels reduced 1.4-2X

decreased platelet ADP level ( J:7327 )

• ADP levels reduced 2.6-6X

decreased platelet dense granule number ( J:42484 )

• very few dense bodies in platelets

decreased platelet serotonin level ( J:7327 )

• 4.5 fold reduction in platelet serotonin

abnormal macrophage physiology ( J:7869 )

• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride

• proenzymes are secreted however

abnormal platelet physiology ( J:7327 , J:42484 )

• reduced secretion of stored serotonin after thrombin stimulation (J:7327)

• increased secretion of lysosomal enzymes (J:7327)

• abnormal platelet aggregation, lower rate (J:42484)

• decreased ATP release (J:42484)

homeostasis/metabolism

decreased platelet ATP level ( J:7327 )

• ATP levels reduced 1.4-2X

decreased platelet serotonin level ( J:7327 )

• 4.5 fold reduction in platelet serotonin

abnormal platelet physiology ( J:7327 , J:42484 )

• reduced secretion of stored serotonin after thrombin stimulation (J:7327)

• increased secretion of lysosomal enzymes (J:7327)

• abnormal platelet aggregation, lower rate (J:42484)

• decreased ATP release (J:42484)

abnormal circulating enzyme level ( J:6219 )

• serum levels of beta glucuronidase and beta galactosidase elevated

increased bleeding time ( J:7327 )

abnormal urine homeostasis ( J:6219 )

• secretion of lysosomal enzymes in urine is decreased

renal/urinary system

enlarged kidney ( J:6219 )

• hypertrophy as a result of testosterone treatment

abnormal urine homeostasis ( J:6219 )

• secretion of lysosomal enzymes in urine is decreased

abnormal kidney physiology ( J:6219 )

• beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment

immune system

abnormal macrophage physiology ( J:7869 )

• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride

• proenzymes are secreted however

pigmentation

abnormal choroid pigmentation ( J:42484 )

• abnormally large melanosomes in choroidal melanocytes

abnormal ciliary body pigmentation ( J:6064 )

• reduced

abnormal melanosome morphology ( J:42484 )

• Background Sensitivity: melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background

growth/size/body

enlarged kidney ( J:6219 )

• hypertrophy as a result of testosterone treatment

cellular

decreased platelet ATP level ( J:7327 )

• ATP levels reduced 1.4-2X

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:7416
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327