FIGURE 8.

A single base pair deletion within exon 9 of the FNIP2 gene is associated with the disease. (A) Schematic of the canine FNIP2 gene with vertical bars representing exons of the gene and the width representative of the size of the exon, the lines between the exons representing the intronic sequence that is spliced to create the mature mRNA, and the position of the mutation within the genomic sequence indicated below the gene. (B) Chromatograms of an unaffected normal, a carrier, and an affected dog are shown with the vertical grey bar identifying the “A” nucleotide that is deleted on one haplotype in the carrier, and on both haplotypes in the affected dog. The amino acid residue affected by the mutation is shown in red in the amino acid sequence above the DNA sequence. The asterisk denotes the premature stop codon created by the frameshift mutation. (C) Schematic of the FNIP2 protein showing the PRKAA1 interaction domain. The red bar identifies the truncated protein created by the frameshift mutation. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]