Figure 3.
AMN mutations in canine I-GS. (A) Normal canine AMN cDNA sequence in exon 10 (above) and the corresponding c.1113_1145del mutation sequence of the GS kindred disease allele (below) are shown. Two copies of a near-perfect 24-bp repeat (underlined) apparently predisposed this locus to deletion by unequal crossover. (B) Normal canine AMN cDNA sequence in exon 1 (above) and the corresponding c.3G>A mutation sequence (arrowhead) of the AS kindred disease allele (below) are shown. The putative translation initiation site of the normal sequence is underlined and conforms to the Kozak consensus. (C) Representative mutation screening tests performed with gDNA templates are shown.