Human genes SHANK1, SHANK2, and SHANK3 have been implicated as susceptibility loci for autism spectrum disorder or related phenotypes in a number of studies (see discussion in OMIM:604999). They encode members of a family of postsynaptic scaffolding proteins that are present in the postsynaptic density of glutamatergic synapses. There is a single orthologous gene in Drosophila, Prosap, for which RNAi-targeting constructs, alleles caused by insertional mutagenesis, and amorphic alleles created by targeted recombination have been generated.
None of the human SHANK genes has been introduced into flies.
Animals homozygous for amorphic mutations of Dmel\Prosap are viable and fertile; they exhibit neuroanatomy defective, neurophysiology defective, and locomotor defective phenotypes in larval and adult stages. Examination of the role of Prosap in synapse development at the larval neuromuscular junctions and the adult mushroom body calyx has demonstrated that, in addition to its postsynaptic function, Prosap acts presynaptically in synapse development in the brain.
[updated Mar. 2019 by FlyBase; FBrf0222196]