Mouse Genome Informatics
cx
    a/a
Hps6ru/Hps6ru

B6.Cg-Hps6ru
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hematopoietic system
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• fewer platelet dense granules than normal
• less than 7% of normal levels of platelet serotonin (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)

homeostasis/metabolism
• less than 7% of normal levels of platelet serotonin (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
• bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cardiovascular system
• on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls
• 60% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherosclerotic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherogenic diet

integument

pigmentation

nervous system
• the ipsilateral lateral geniculate nucleus has fewer projections from the retinal ganglion cells
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

vision/eye
• there is a reduced number of projections of retinal ganglion cells to the ipsilateral lateral geniculate nucleus

renal/urinary system
• concentration of lysosomal enzymes is elevated
• decreased rate of secretion of lysosomal enzyme into urine

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 6; HPS6 614075 J:81444
Storage Pool Platelet Disease 185050 J:7327