Fig. 3

LOF premature stop codon mutation in the BChE gene. a. IGV screenshot of mutation (in the heterozygous state) in the BChE gene in position 69751554 of chromosome 3 (arrow). Because the gene is running in the antisense direction, the reference sequence should be read right to left. The aligned sequences are not reverse complemented so “C” = “G” and “A” = “T” with respect to the reference sequence. The top frame is correct. The G > T mutation results in p.Gly180*. This figure depicts exome sequence alignments for animal ON22186, the original animal in which the BChE mutation was detected. b. Sanger sequence trace indicating the premature stop codon BChE c.538G > T mutation in the heterozygous state (arrow) in animal ON22193, a third generation descendant of animal ON22186