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Phenotypes Associated with This Genotype
Genotype
MGI:3586967
Allelic
Composition
Hps1ep/Hps1ep
Genetic
Background
involves: C3HeB/FeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps1ep mutation (7 available); any Hps1 mutation (20 available)
phenotype observed in females
phenotype observed in males
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
• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride
• proenzymes are secreted however
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory