We made a major breakthrough in understanding how this region causes disease, using RNA-seq to show that Pkhd1 (Polycystic Kidney and Hepatic Disease 1), which is upstream on chromosome 1, is mutated in NOD.Abd3 mice with truncation after exon 35 (designated “Pkhd1del36−67”) (Huang et al. 2018). Here, PKHD1 is linked to autosomal recessive polycystic kidney disease.