Mouse Genome Informatics
hm
    Ap3b1pe/Ap3b1pe
B6.C3-Ap3b1pe/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• about 40% survive less than 2 years

vision/eye
• absence of optokinetic nystagmus
• visual sensitivity is diminished on dim backgrounds but sensitivity is normal on bright backgrounds

nervous system
• inferior fasciculus of the accessory optic tract is significantly reduced
• denser optic projections to the contralateral anterior and posterior olivary pretectal nuclei
• projections to the rostral ipsilateral anterior olivary pretectal nucleus are reduced in density
• accessory input to the contralateral dorsal terminal nucleus is substantially reduced
• reduced ipsilateral projections to the superior colliculus
• reduced ipsilateral optic projections
• reduced ipsilateral projections to the visual cortex

respiratory system
• in about 3/8 of homozygotes surviving more than 2 years
• lungs show a moderately honeycombed structure
• moderate airspace enlargement

cardiovascular system
• in about 3/8 of homozygotes surviving more than 2 years

behavior/neurological
• absence of optokinetic nystagmus

homeostasis/metabolism
• less than 3% of normal platelet serotonin levels
• bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls

hematopoietic system
• transmission electron microscopy of platelets shows that the dense granules have very little contents, although no other subcellular platelet abnormalities are founds
• platelet ADP levels are much lower than in C57BL/6J controls
• platelet ATP levels are much lower than in C57BL/6J controls
• vastly reduced number of platelet dense granules
• less than 3% of normal platelet serotonin levels

cellular
• in primary macrophages and melanocyte derived cell lines of pearl mutants immunohistochemistry staining the delta subunit of the AP3 complex reveals a weak, diffuse cytoplasmic staining rather than the normal punctate pattern
• transmission electron microscopy shows numerous enlarged lysosomes in the kidney proximal tubule cells
• thrombin stimulation of platelets results in slightly more than half the normal levels of secretion of beta-glucuronidase and beta-galactosidase

renal/urinary system
• transmission electron microscopy shows numerous enlarged lysosomes in the kidney proximal tubule cells

Mouse Models of Human Disease
OMIM IDRef(s)
Storage Pool Platelet Disease 185050 J:7327