Mouse Genome Informatics
hm1
     Bloc1s5mu/Bloc1s5mu
CHMU/Le
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
hematopoietic system
hematopoietic system phenotype ( J:29151 )
N
• normal platelet counts (J:29151)
abnormal platelet dense granule morphology ( 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
abnormal platelet dense granule number ( J:29151 )
• platelets nearly absent of dense granules
decreased platelet serotonin level ( J:29151 )
• platelet serotonin levels are less than 8% those of normal
decreased platelet aggregation ( J:29151 )
• decreased aggregation both in the presence of high or low concentrations of collagen
abnormal platelet dense granule physiology ( J:29151 )
• very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes

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

cellular
decreased lysosomal enzyme secretion ( J:29151 )
• 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
abnormal retinal pigment epithelium morphology ( 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

vision/eye
abnormal retinal pigment epithelium morphology ( 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

renal/urinary system
abnormal proximal convoluted tubule morphology ( J:29151 )
• 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 Euro Europhenome
N normal phenotype
behavior/neurological
impaired swimming ( J:89392 )
• mice show variable ability to swim

vision/eye
abnormal eye pigmentation ( J:29164 )
• light eyes at birth

hearing/vestibular/ear
abnormal otolith morphology ( J:89392 )
• variable absence of otoconia; some mice lack otoconia and some have reduced levels
absent otoliths ( J:5145 )
• many lack otoliths in one or both ears
abnormal linear vestibular evoked potential ( J:89392 )
• 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
decreased platelet serotonin level ( J:29151 )
• serotonin levels in platelets is 8% of control levels
abnormal platelet physiology ( J:29151 )
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
decreased platelet aggregation ( J:29151 )
• reduced platelet aggregation induced by collagen
increased bleeding time ( J:29151 )
• greater than 15 minutes
decreased urine protein level ( J:29151 )
• decreased rate of lysosomal enzyme excretion into urine

renal/urinary system
decreased urine protein level ( J:29151 )
• decreased rate of lysosomal enzyme excretion into urine
abnormal proximal convoluted tubule morphology ( J:29151 )
• increased ceroid-like pigment detectable in proximal tubules

cellular
lysosomal protein accumulation ( J:29151 )
• increased levels of beta-glucuronidase, beta-galactosidase, and beta-glucosidase in the kidney but not liver or platelet

pigmentation
diluted coat color ( J:29164 , J:88797 )
• muted brown fur with white under fur (J:29164)
• color intensity about 80% that of controls (J:88797)
abnormal eye pigmentation ( J:29164 )
• light eyes at birth
abnormal melanosome morphology ( J:88797 )
• 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
abnormal platelet dense granule morphology ( J:29151 )
• lack of dense granules with clear outlines
decreased platelet ATP level ( J:29151 )
• no releasable ATP
decreased platelet serotonin level ( J:29151 )
• serotonin levels in platelets is 8% of control levels
abnormal platelet physiology ( J:29151 )
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
decreased platelet aggregation ( J:29151 )
• reduced platelet aggregation induced by collagen

integument
diluted coat color ( J:29164 , J:88797 )
• 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