Fig. 2.

A GJA9 frameshift variant in polyneuropathy affected Leonberger dogs. a IGV screenshots showing the homozygous presence of the 2 bp deletion in the GJA9 gene on CFA15 in reads from the sequenced case (marked by a red arrow) compared to a control dog genome. b The schematic representation indicates that the 2 bp deletion leads to a frameshift that is predicted to produce a significantly truncated intracellular C-terminus of canine GJA9. Note that the transmembranal N-terminal connexin domain that is important for gap junction formation is predicted to be unaffected