While the vast majority of phenotypes uncovered in our comprehensive screen were recessively inherited, consistent with JNCL disease genetics, the observation that heterozygous Cln3Δex7/8 mutation can influence more subtle parameters is also important, as this knowledge will likely improve our broader understanding of CLN3 biology and will be useful in disease biomarker development. The gene discussed is CLN3; the disease is juvenile neuronal ceroid lipofuscinosis.