Mouse Genome Informatics
hm
    Hps4le/Hps4le
B6.C3-Pde6brd1 Hps4le
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cellular
• small elevations seen in liver and spleen (J:5967)
• retained by cells rather than being secreted (J:61552)
• elevated levels of enzymes in cells in culture (J:61552)
• thrombin stimulation of platelets results in approximately double the normal levels of secretion of beta-glucaronidase and beta-galactosidase

renal/urinary system
• Testosterone induced excretion of beta-galactosidase only one third level in controls and kidney levels are 4X control levels, synthesis increased 5X (J:5967)
• of lysosomal enzymes (J:7416)
• results in accumulation of lysosomal enzymes in proximal tubule cells of the kidney (J:7416)

pigmentation
• giant melanosomes present
• reduced number of melanosomes and reduced pigment content in remaining melanosomes
• increased proportion of immature forms

vision/eye
• giant melanosomes present
• reduced number of melanosomes and reduced pigment content in remaining melanosomes

hematopoietic system
• decreased numbers of large dense granules per platelet
• 4.5 fold less serotonin present (J:7327)
• uptake deficient (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
• hypersecretion of lysosomal enzymes after thrombin stimulation

homeostasis/metabolism
• 4.5 fold less serotonin present (J:7327)
• uptake deficient (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
• hypersecretion of lysosomal enzymes after thrombin stimulation
• prolonged bleeding times with relatively normal platelet numbers
• Testosterone induced excretion of beta-galactosidase only one third level in controls and kidney levels are 4X control levels, synthesis increased 5X (J:5967)
• of lysosomal enzymes (J:7416)
• results in accumulation of lysosomal enzymes in proximal tubule cells of the kidney (J:7416)

cardiovascular system
• on an atherogenic diet homozygotes develop fewer aortic lesions and smaller lesions than C57BL/6J controls
• 56% of homozygotes survive to 48 weeks of age on an atherogenic diet, when no C57BL/6J controls survive, and, although there are significant atherogenic lesions in these 48 week old homozygotes, the lesions are smaller than those in 39 week old C57BL/6J controls fed the atherosclerotic diet

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 4; HPS4 614073 J:75144
Storage Pool Platelet Disease 185050 J:7327