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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 (27 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
• few dense bodies in platelets as examined by electron microscopy
• granules present but abnormal as determined by mepacrine uptake
• few dense bodies in platelets as examined by electron microscopy
• 8 fold reduction in platelet serotonin
• decreased ATP release as tested using collagen as an agonist
• lysosomal enzymes normal

homeostasis/metabolism
• 8 fold reduction in platelet serotonin
• decreased ATP release as tested using collagen as an agonist
• lysosomal enzymes normal
• 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
05/17/2016
MGI 6.03
The Jackson Laboratory