Fig. 4

An LTR-retrotransposon insertion in the Stripe CLCN2. A The stripe mutation corresponds to the insertion of a 5832-bp LTR-retrotransposon (gray) in the fifth intron of the CLCN2 gene. Three fragments (not drawn to scale) of the retrotransposon element are spliced together and a 397-bp sequence is inserted between exons 5 and 6 of the CLCN2 Stripe transcript. As a result, four amino acids are introduced after exon 5 followed by a premature stop codon (red line). B Agarose gel images of PCR products of the CLCN2 fragments from cDNA (left) and gDNA (right) of wild-type (+ / +), Motley (mm/mm), and Stripe (ms/ms) individuals. The 397-bp insertion is visible in the cDNA of the Stripe samples and the 5832-bp insertion in the gDNA of the Stripe samples. C Graphical representation of the domains of the corn snake CLCN2 protein. The premature stop codon is at position 205 and the red arrow points to the location of the gRNA used for gene-editing. Extra: extracellular domain, orange rectangles: transmembrane domains (not drawn to scale)