Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps3coa mutation
(1 available);
any
Hps3 mutation
(54 available)
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pigmentation
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• iris pigmentation is near uniform hypopigmentation
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vision/eye
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• iris pigmentation is near uniform hypopigmentation
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Allelic Composition |
Hps3coa/Hps3coa
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Genetic Background |
involves: C57BL/10J |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hps3coa mutation
(1 available);
any
Hps3 mutation
(54 available)
|
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vision/eye
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• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies
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• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium
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pigmentation
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• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color
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• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies
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• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium
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• shift toward more immature forms of melanosomes
• few ellipsoid melanosomes
• striated melanosomes predominantly round
• spherical multivesicular bodies also present
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hematopoietic system
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• decreased ATP release, as tested using collagen as an agonist
• lysosomal enzymes normal
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• 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
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• 8-fold reduction in platelet serotonin
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• amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect
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homeostasis/metabolism
integument
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• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color
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cellular
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• decreased ATP release, as tested using collagen as an agonist
• lysosomal enzymes normal
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vision/eye
pigmentation
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• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color
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integument
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• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color
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