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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bloc1s5mu
muted
MGI:1856106
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bloc1s5mu/Bloc1s5mu CHMU/Le MGI:3795672
hm2
Bloc1s5mu/Bloc1s5mu involves: Stock t MGI:3587678


Genotype
MGI:3795672
hm1
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




Genotype
MGI:3587678
hm2
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 (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice show variable ability to swim (J:89392)
• mice show variable ability to swim (J:89392)

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

hearing/vestibular/ear
• variable absence of otoconia; some mice lack otoconia and some have reduced levels (J:89392)
• variable absence of otoconia; some mice lack otoconia and some have reduced levels (J:89392)
• many lack otoliths in one or both ears (J:5145)
• many lack otoliths in one or both ears (J:5145)
• mice with absent otoconia show absent vestibular compound action potentials (J:89392)
• variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present (J:89392)
• mice with absent otoconia show absent vestibular compound action potentials (J:89392)
• variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present (J:89392)

homeostasis/metabolism
• serotonin levels in platelets is 8% of control levels (J:29151)
• serotonin levels in platelets is 8% of control levels (J:29151)
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high (J:29151)
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high (J:29151)
• reduced platelet aggregation induced by collagen (J:29151)
• reduced platelet aggregation induced by collagen (J:29151)
• greater than 15 minutes (J:29151)
• greater than 15 minutes (J:29151)
• decreased rate of lysosomal enzyme excretion into urine (J:29151)
• decreased rate of lysosomal enzyme excretion into urine (J:29151)

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

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

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

hematopoietic system
• lack of dense granules with clear outlines (J:29151)
• lack of dense granules with clear outlines (J:29151)
• no releasable ATP (J:29151)
• no releasable ATP (J:29151)
• serotonin levels in platelets is 8% of control levels (J:29151)
• serotonin levels in platelets is 8% of control levels (J:29151)
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high (J:29151)
• reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high (J:29151)
• reduced platelet aggregation induced by collagen (J:29151)
• reduced platelet aggregation induced by collagen (J:29151)

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





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory