Aanat^{rs216509331-A}

Low levels of melatonin production in C57BL/6J mice have been correlated with a point mutation in the gene encoding arylalkylamine N-acetyltransferase. A G to A conversion within a cryptic splice site results in the preferential incorporation of a pseudo-exon, containing an in-frame stop codon as the second codon, into the transcript. In vitro analysis demonstrates that the resulting truncated protein, which lacks several conserved C-terminal motifs, has less than 1% enzyme activity when compared to control C3H/HeJ mice. (J:51516)