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Phenotypes Associated with This Genotype
Genotype
MGI:3587678
Allelic
Composition
Bloc1s5mu/Bloc1s5mu
Genetic
Background
involves: Stock t
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bloc1s5mu mutation (6 available); any Bloc1s5 mutation (11 available)
phenotype observed in females
phenotype observed in males
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 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
07/19/2016
MGI 6.04
The Jackson Laboratory