Solute Carrier Family 35, Member D3 (SLC35D3)

Northern blot analysis detected an Slc35d3 doublet around 2.6 kb in brain, but not in any other mouse tissues examined. Quantitative real-time PCR detected expression in all mouse tissues examined, with the highest level in platelets.

The dense granule defect is caused disruption of the Slc35d3 gene by insertion of a retroviral intracisternal A-particle (IAP) element within exon 1. Homozygous mutant mice expressed no normal Slc35d3, but they expressed abnormally sized Slc35d3 transcripts in a wide range of tissues, likely due to utilization of IAP promoters. The mutation behaved as a typical recessive loss-of-function trait in platelets, implying that the mutant protein, if stable, is nonfunctional.