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Phenotypes Associated with This Genotype
Genotype
MGI:3795672
Allelic
Composition
Bloc1s5mu/Bloc1s5mu
Genetic
Background
CHMU/Le
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bloc1s5mu mutation (6 available); any Bloc1s5 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• normal platelet counts (J:29151)
• normal platelet counts (J:29151)
• although a normal number of dense granules stain with mepacrine, UV flashing is reduced by more than fivefold indicating an abnormal intragranular environment (J:29151)
• although a normal number of dense granules stain with mepacrine, UV flashing is reduced by more than fivefold indicating an abnormal intragranular environment (J:29151)
• platelets nearly absent of dense granules (J:29151)
• platelets nearly absent of dense granules (J:29151)
• platelet serotonin levels are less than 8% those of normal (J:29151)
• platelet serotonin levels are less than 8% those of normal (J:29151)
• decreased aggregation both in the presence of high or low concentrations of collagen (J:29151)
• decreased aggregation both in the presence of high or low concentrations of collagen (J:29151)
• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes (J:29151)
• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes (J:29151)

homeostasis/metabolism
• platelet serotonin levels are less than 8% those of normal (J:29151)
• platelet serotonin levels are less than 8% those of normal (J:29151)
• decreased aggregation both in the presence of high or low concentrations of collagen (J:29151)
• decreased aggregation both in the presence of high or low concentrations of collagen (J:29151)
• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes (J:29151)
• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes (J:29151)
• bleed time is greater than 15 minutes (J:29151)
• bleed time is greater than 15 minutes (J:29151)

cellular
• lysosomal enzyme levels are increased in kidneys and there is an associated decrease in secretion into the urine (J:29151)
• thrombin induced release of glucuronidase from platelets is decreased, although to a lesser degree than in mocha homozygotes, and thrombin induced release of galactosidase is 60% to 70% of normal (J:29151)
• lysosomal enzyme levels are increased in kidneys and there is an associated decrease in secretion into the urine (J:29151)
• thrombin induced release of glucuronidase from platelets is decreased, although to a lesser degree than in mocha homozygotes, and thrombin induced release of galactosidase is 60% to 70% of normal (J:29151)

pigmentation
• although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules (J:29151)
• although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules (J:29151)

vision/eye
• although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules (J:29151)
• although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules (J:29151)

renal/urinary system
• higher than normal autofluorescence, typical of ceroid-like pigment, is found in proximal tubules (J:29151)
• higher than normal autofluorescence, typical of ceroid-like pigment, is found in proximal tubules (J:29151)

Mouse Models of Human Disease
OMIM ID Ref(s)
Storage Pool Platelet Disease 185050 J:29151


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