Fig. 2

LOF premature stop codon mutation in the RNASEL gene in animal ON12033. a. IGV screenshot of mutation (in the heterozygous state) in the RNASEL gene in position 184268143 of chromosome 1 (arrow). The top frame is correct. The C > T mutation results in p.Arg552* in animal ON12033. b. Sanger sequence trace indicating the premature stop codon RNASEL c.1654C > T mutation in the heterozygous state (arrow) in animal ON12033