A 1.5kb Psn promoter regulatory sequence (PEPC - Psn endogenous promoter cassette) drives expression of the longer isoform of Psn, mutated to carry an amino acid substitution that is equivalent to a H163R mutation in the orthologous human PSEN1 gene, a variant associated with familial Alzheimer disease.
The vast majority of PsnH163R.PEPC.L flies appear morphologically normal, or exhibit mild neurogenic defects, manifested as a rough eye phenotype, mild wing notching, and abnormal thoracic bristle patterning. A small proportion of these flies die at the late prepupal stage.
