Fig. 1

First Trio of Cats WGS for Disease Variant Identification. (Left) Pedigree of cats segregating for the AIPL1 variant for Persian progressive retinal atrophy (PRA). Circles represent females, squares represent males, open symbols indicate phenotypically normal cats; solid symbols indicate Persian PRA-affected cats, half-filled symbols indicate obligate carrier cats. The arrows indicate the probands. AIPL1 c.577C > T genotypes are indicated above each cat. Cats with an asterisk “*” are the cats used for whole genome sequencing. (Right) The trio of cats segregating for the Persian PRA was whole genome sequenced to potentially identify the causal variant for this animal model of LCA. Cats included (top) a wildtype bobbed tail queen (S13230), (middle) an PRA-affected normal tail sire (S14056), and (bottom) an PRA-obligate carrier female offspring (S16628) which also displays the bobbed tail. The bobbed tail trait was introduced by female cat 11662, a pedigreed cat of the Japanese Bobtail breed