However, these orthologous mouse mutants15,40–42, including the Pkhd1 knockout strain Pkhd1LSL/LSL17 (referred to as Pkhd1 KO) and the hypomorphic Pkhd1Δ3-4/Δ3-4 mutant carrying a deletion of exons 3–414,43 (Table 1), display minimal renal disease. Here, PKHD1 is linked to kidney disorder.