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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 (9 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 (J:72606)
• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies (J:72606)
• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium (J:72606)
• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium (J:72606)
• lack eye pigment (J:9300)
• lack eye pigment (J:9300)

pigmentation
• paler coat color in both juveniles and adults (J:9300)
• ear pinna lack pigment at 3-4 days of age (J:9300)
• extremities light in color (J:9300)
• paler coat color in both juveniles and adults (J:9300)
• ear pinna lack pigment at 3-4 days of age (J:9300)
• extremities light in color (J:9300)
• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies (J:72606)
• electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies (J:72606)
• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium (J:72606)
• electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium (J:72606)
• lack eye pigment (J:9300)
• lack eye pigment (J:9300)
• shift toward more immature forms of melanosomes (J:80751)
• few ellipsoid melanosomes (J:80751)
• striated melanosomes predominantly round (J:80751)
• spherical multivesicular bodies also present (J:80751)
• shift toward more immature forms of melanosomes (J:80751)
• few ellipsoid melanosomes (J:80751)
• striated melanosomes predominantly round (J:80751)
• spherical multivesicular bodies also present (J:80751)

hematopoietic system
• few dense bodies in platelets as examined by electron microscopy (J:9300)
• granules present but abnormal as determined by mepacrine uptake (J:9300)
• few dense bodies in platelets as examined by electron microscopy (J:9300)
• granules present but abnormal as determined by mepacrine uptake (J:9300)
• few dense bodies in platelets as examined by electron microscopy (J:9300)
• few dense bodies in platelets as examined by electron microscopy (J:9300)
• 8 fold reduction in platelet serotonin (J:9300)
• 8 fold reduction in platelet serotonin (J:9300)
• decreased ATP release as tested using collagen as an agonist (J:9300)
• lysosomal enzymes normal (J:9300)
• decreased ATP release as tested using collagen as an agonist (J:9300)
• lysosomal enzymes normal (J:9300)

homeostasis/metabolism
• 8 fold reduction in platelet serotonin (J:9300)
• 8 fold reduction in platelet serotonin (J:9300)
• decreased ATP release as tested using collagen as an agonist (J:9300)
• lysosomal enzymes normal (J:9300)
• decreased ATP release as tested using collagen as an agonist (J:9300)
• lysosomal enzymes normal (J:9300)
• more than 15 minutes as opposed to 1 or 2 minutes (J:9300)
• more than 15 minutes as opposed to 1 or 2 minutes (J:9300)

integument
• paler coat color in both juveniles and adults (J:9300)
• ear pinna lack pigment at 3-4 days of age (J:9300)
• extremities light in color (J:9300)
• paler coat color in both juveniles and adults (J:9300)
• ear pinna lack pigment at 3-4 days of age (J:9300)
• extremities light in color (J:9300)


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
02/02/2016
MGI 6.02
The Jackson Laboratory