Fig. 2.
Details of the PAX3:c.937C>t variant in Maine Coon cats with blue eyes and hearing loss. a) Schematic representation of the PAX3 gene showing the WGS-detected variant location in exon 6 (the scheme corresponds to transcript XM_019838731.3). b) IGV screenshot showing the short-read alignments (average of 20× read depth) of 2 DBE cats and an unrelated control Maine Coon cat at the position of the variant. c) Representative Sanger electropherograms of blue-eyed and green-eyed cats are shown. Amino acid translations are indicated. The premature stop codon of the mutant sequence is indicated in red.

Details of the PAX3:c.937C>t variant in Maine Coon cats with blue eyes and hearing loss. a) Schematic representation of the PAX3 gene showing the WGS-detected variant location in exon 6 (the scheme corresponds to transcript XM_019838731.3). b) IGV screenshot showing the short-read alignments (average of 20× read depth) of 2 DBE cats and an unrelated control Maine Coon cat at the position of the variant. c) Representative Sanger electropherograms of blue-eyed and green-eyed cats are shown. Amino acid translations are indicated. The premature stop codon of the mutant sequence is indicated in red.

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