hematopoietic system
• platelet ATP levels are much lower than in C57BL/6J controls
|
• platelet ADP 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
• platelet ATP levels are much lower than in C57BL/6J controls
|
• 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
|
cellular
• platelet ATP levels are much lower than in C57BL/6J controls
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Hermansky-Pudlak syndrome 6 | DOID:0060544 |
OMIM:614075 |
J:81444 | |
platelet storage pool deficiency | DOID:2223 |
OMIM:185050 |
J:7327 |