Mouse Genome Informatics
hm
    Hps1ep/Hps1ep
involves: C3HeB/FeJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Eye tissue and skin melanocytes of wild-type and Hps1ep/Hps1ep mice

vision/eye
• abnormally large melanosomes in choroidal melanocytes
• reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve

respiratory system
• type II epithelial cells with enlarged lamellar bodies

hematopoietic system
• ADP levels reduced 2.6-6X
• ATP levels reduced 1.4-2X
• very few dense bodies in platelets
• 4.5 fold reduction in platelet serotonin
• proenzymes are secreted however
• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride
• 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
• 4.5 fold reduction in platelet serotonin
• 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)
• serum levels of beta glucuronidase and beta galactosidase elevated
• secretion of lysosomal enzymes in urine is decreased

renal/urinary system
• secretion of lysosomal enzymes in urine is decreased
• hypertrophy as a result of testosterone treatment
• beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment

immune system
• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride
• proenzymes are secreted however

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

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 1; HPS1 203300 J:7416
Storage Pool Platelet Disease 185050 J:7327