Mouse Genome Informatics
hm
    Hps3coa/Hps3coa
involves: C57BL/10J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 3; HPS3 614072 J:9300 , J:80751
Storage Pool Platelet Disease 185050 J:9300