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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 (9 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 (J:42484)
• abnormally large melanosomes in choroidal melanocytes (J:42484)
• reduced (J:6064)
• reduced (J:6064)
• reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve (J:6064)
• reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve (J:6064)

respiratory system
• type II epithelial cells with enlarged lamellar bodies (J:85431)
• type II epithelial cells with enlarged lamellar bodies (J:85431)

hematopoietic system
• ADP levels reduced 2.6-6X (J:7327)
• ADP levels reduced 2.6-6X (J:7327)
• ATP levels reduced 1.4-2X (J:7327)
• ATP levels reduced 1.4-2X (J:7327)
• very few dense bodies in platelets (J:42484)
• very few dense bodies in platelets (J:42484)
• 4.5 fold reduction in platelet serotonin (J:7327)
• 4.5 fold reduction in platelet serotonin (J:7327)
• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride (J:7869)
• proenzymes are secreted however (J:7869)
• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride (J:7869)
• proenzymes are secreted however (J:7869)
• reduced secretion of stored serotonin after thrombin stimulation (J:7327)
• increased secretion of lysosomal enzymes (J:7327)
• 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 platelet aggregation, lower rate (J:42484)
• decreased ATP release (J:42484)

homeostasis/metabolism
• 4.5 fold reduction in platelet serotonin (J:7327)
• 4.5 fold reduction in platelet serotonin (J:7327)
• reduced secretion of stored serotonin after thrombin stimulation (J:7327)
• increased secretion of lysosomal enzymes (J:7327)
• 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 platelet aggregation, lower rate (J:42484)
• decreased ATP release (J:42484)
• serum levels of beta glucuronidase and beta galactosidase elevated (J:6219)
• serum levels of beta glucuronidase and beta galactosidase elevated (J:6219)
• secretion of lysosomal enzymes in urine is decreased (J:6219)
• secretion of lysosomal enzymes in urine is decreased (J:6219)

renal/urinary system
• secretion of lysosomal enzymes in urine is decreased (J:6219)
• secretion of lysosomal enzymes in urine is decreased (J:6219)
• hypertrophy as a result of testosterone treatment (J:6219)
• hypertrophy as a result of testosterone treatment (J:6219)
• beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment (J:6219)
• beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment (J:6219)

immune system
• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride (J:7869)
• proenzymes are secreted however (J:7869)
• several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride (J:7869)
• proenzymes are secreted however (J:7869)

pigmentation
• abnormally large melanosomes in choroidal melanocytes (J:42484)
• abnormally large melanosomes in choroidal melanocytes (J:42484)
• reduced (J:6064)
• reduced (J:6064)
• Background Sensitivity: melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background (J:42484)
• Background Sensitivity: melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background (J:42484)


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
02/02/2016
MGI 6.02
The Jackson Laboratory