Figure 3.

Aberrant CYB5R3 transcripts in the affected cat. (A) Fragment Analyzer bands of the RT–PCR products in the control animal show the expected 599 bp band, while in the affected animal, two different bands are visible (mut #1 and mut #2). Sanger sequencing yielded a length of 635 bp for mut #1 and 526 bp for mut #2. (B) Schematic representation of exons 2 to 4 of the CYB5R3 gene. The c.226+5G>A variant is indicated on the genomic DNA level with a blue arrow. The variant leads to aberrant splicing, adding 36 bp of intron 3 to the mut #1 mRNA and skipping the entire exon 3 in the mut #2 transcript.