Mouse Genome Informatics
hm
    Hps1ep/Hps1ep
B6.C3Fe-Hps1ep/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Wild-type and Hps1ep/Hps1ep littermates

cellular
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts
• thrombin stimulation of platelets results in approximately double the normal levels of secretion of beta-glucaronidase and beta-galactosidase

immune system
• lower natural killer cell activity
• mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice

pigmentation
• display a reduction in pigmentation of the ears
• display a reduction in pigmentation of the tail
• the iris is slightly dark
• marked increase in immature forms of melanosomes, with a shift of distribution of type IV melanosomes towards more elliptical forms

hematopoietic system
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• 4.5 fold less platelet serotonin than in C57BL/6J control platelets (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
• lower natural killer cell activity

homeostasis/metabolism
• 4.5 fold less platelet serotonin than in C57BL/6J control platelets (J:7327)
• platelet serotonin level is also lower than that of control when fed an atherogenic diet (J:29748)
• bleed time averaging over 14 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

cardiovascular system
• on an atherogenic diet homozygotes develop larger atherosclerotic lesions in the aorta than C57BL/6J controls

vision/eye
• the iris is slightly dark

craniofacial
• display a reduction in pigmentation of the ears

hearing/vestibular/ear
• display a reduction in pigmentation of the ears

limbs/digits/tail
• display a reduction in pigmentation of the tail

integument
• display a reduction in pigmentation of the ears
• display a reduction in pigmentation of the tail

respiratory system
• mild lymphocytic infiltration of the alveolar septa but no fibrosis in some aged mice
• progressive cytoplasmic foamy changes are observed in type II pneumocytes from P0 to 24 month of age, increasing in terms of both the affected cell number and degree of severity as mice age
• marked swelling and degenerative changes of type II pneumocytes (referred to as "giant lamellar body degeneration" or GLBD) in aged mice
• most lamellar bodies are increased in size at P0
• numerous giant-sized lamellar bodies are often fused with each other in aged mice
• enlarged air spaces in aged mice

Mouse Models of Human Disease
OMIM IDRef(s)
Hermansky-Pudlak Syndrome 1; HPS1 203300 J:80751
Storage Pool Platelet Disease 185050 J:7327