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Phenotypes Associated with This Genotype
Genotype
MGI:3795672
Allelic
Composition
Bloc1s5mu/Bloc1s5mu
Genetic
Background
CHMU/Le
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bloc1s5mu mutation (2 available); any Bloc1s5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
N
• normal platelet counts
• 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 devoid 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
• choroidal melanosomes often are less dense and may exhibit irregular outlines
• total numbers of melanosomes are reduced severely within the retinal pigment epithelium and within the choroid in adults
• remaining retinal pigment epithelium melanosomes are smaller and often contain unusual inclusions and lamellar bodies
• hypopigmentation of the coat, with fur or a light muted brown shade
• hypopigmentation of the eyes is seen in young (less than 5 days of age) mice

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
• hypopigmentation of the eyes is seen in young (less than 5 days of age) mice

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory