A deletion in exon 5 is visualized on the genomic and transcript level. (A) PCR products of exon 5 in affected dogs (339 bp, lanes 1,2), carrier dogs (heterozygotes, lanes 3–5), and unaffected dog (519 bp, lane 6). (B) PCR amplification of cDNA of one affected (329 bp, lane 1) and one healthy dog (392 bp, lane 2) using primers localized in exon 3 and exon 6. (C) Alignment of sequenced PCR product of mutant and wild-type DNA, where exonic sequence is represented in uppercase letters and intronic sequence in lowercase letters. (D) cDNA.