Fig. 3From: Exome screening to identify loss-of-function mutations in the rhesus macaque for development of preclinical models of human diseaseLOF 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 ON22186Back to article page