Mouse Genome Informatics
hm1
    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


Mouse Genome Informatics
hm2
    Bloc1s5mu/Bloc1s5mu
involves: Stock t
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• mice show variable ability to swim

vision/eye
• light eyes at birth

hearing/vestibular/ear
• variable absence of otoconia; some mice lack otoconia and some have reduced levels
• many lack otoliths in one or both ears
• mice with absent otoconia show absent vestibular compound action potentials
• variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present

homeostasis/metabolism
• serotonin levels in platelets is 8% of control levels
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
• reduced platelet aggregation induced by collagen
• greater than 15 minutes
• decreased rate of lysosomal enzyme excretion into urine

renal/urinary system
• decreased rate of lysosomal enzyme excretion into urine
• increased ceroid-like pigment detectable in proximal tubules

cellular
• increased levels of beta-glucuronidase, beta-galactosidase, and beta-glucosidase in the kidney but not liver or platelet

pigmentation
• muted brown fur with white under fur (J:29164)
• color intensity about 80% that of controls (J:88797)
• light eyes at birth
• marked absence of fully pigmented, elongated melanosomes in skin
• accumulation of abnormal vescicular forms
• many striated melanosomes
• impaired melanosome maturation and reduced numbers per unit area
• immature melanosomes exocytosed by melanocytes and taken up keratinocytes

hematopoietic system
• lack of dense granules with clear outlines
• no releasable ATP
• serotonin levels in platelets is 8% of control levels
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
• reduced platelet aggregation induced by collagen

integument
• muted brown fur with white under fur (J:29164)
• color intensity about 80% that of controls (J:88797)

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