Mouse Genome Informatics
hm
    Bloc1s5mu/Bloc1s5mu
CHMU/Le
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hematopoietic system
N
• 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
• platelets nearly absent of dense granules
• platelet serotonin levels are less than 8% those of normal
• decreased aggregation both in the presence of high or low concentrations of collagen
• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes

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

cellular
• lysosomal enzyme levels are increased in kidneys and there is an associated decrease in secretion into the urine
• 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

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

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

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

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