Analysis Tools|
Allele Symbol Allele Name Allele ID |
Hps3coa cocoa MGI:1856707 |
| Summary |
3 genotypes |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• iris pigmentation is near uniform hypopigmentation
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• iris pigmentation is near uniform hypopigmentation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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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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• lack eye pigment
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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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• lack eye pigment
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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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• 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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• decreased ATP release, as tested using collagen as an agonist
• lysosomal enzymes normal
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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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• more than 15 minutes as opposed to 1 or 2 minutes
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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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• decreased ATP release, as tested using collagen as an agonist
• lysosomal enzymes normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hermansky-Pudlak syndrome 3 | DOID:0060541 |
OMIM:614072 |
J:9300 , J:80751 | |
| platelet storage pool deficiency | DOID:2223 |
OMIM:185050 |
J:9300 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• lack eye pigment
|
|
• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color
|
|
• lack eye pigment
|
|
• paler coat color in both juveniles and adults
• ear pinna lack pigment at 3-4 days of age
• extremities light in color
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Hermansky-Pudlak syndrome 3 | DOID:0060541 |
OMIM:614072 |
J:29467 | |
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 09/30/2025 MGI 6.24 |
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