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Phenotypes Associated with This Genotype
Genotype
MGI:3587102
Allelic
Composition
Hps3coa/Hps3coa
Genetic
Background
involves: C57BL/10J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps3coa mutation (1 available); any Hps3 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies
• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium
• lack eye pigment

pigmentation
• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color
• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies
• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium
• lack eye pigment
• shift toward more immature forms of melanosomes
• few ellipsoid melanosomes
• striated melanosomes predominantly round
• spherical multivesicular bodies also present

hematopoietic system
• decreased ATP release, as tested using collagen as an agonist
• lysosomal enzymes normal
• fewer dense bodies in platelets, with ~30% of platelets having no detectable dense granules, as examined by electron microscopy
• normal numbers of dense granules are present, as determined by the mepacrine method; however, the intragranular environment of dense granules is abnormal as only 2% of granules flash after exposure to ultraviolet light
• 8-fold reduction in platelet serotonin
• amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect

homeostasis/metabolism
• 8-fold reduction in platelet serotonin
• amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect
• more than 15 minutes as opposed to 1 or 2 minutes

integument
• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color


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
08/15/2017
MGI 6.10
The Jackson Laboratory