biostudies-literatureOuteda PIntramural NIH HHSNIDDK NIH HHS1130-1144https://www.ebi.ac.uk/biostudies/studies/S-EPMC6005173biostudies-literatureUnknown92(5)Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the kidney and liver caused by mutations in a single gene, PKHD1. This gene encodes fibrocystin/polyductin (FPC, PD1), a large protein shown by in vitro studies to undergo Notch-like processing. Its cytoplasmic tail, reported to include a ciliary targeting sequence, a nuclear localization signal, and a polycystin-2 binding domain, is thought to traffic to the nucleus after cleavage. We now report a novel mouse line with a triple HA-epitope "knocked-in" to the C-terminus along with lox P sites flanking exon 67, which encodes most of the C-terminus (Pkhd1^Flox67HA). The triple HA-epitope has no functional effect as assayed by phenotype and allows in vivo tracking of Fibrocystin. We used the HA tagKidney internationalA novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.PMC6005173P30 DK090868K23 DK109203R01 DK095036R01 DK062199R01 DK076017R01 DK051259P30 DK079310ZIA DK075042Watnick TOuteda PBridges SQian FGermino GGHartung EAZhu XZhou FYao QMenezes LXu HHuang QfalseA novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the kidney and liver caused by mutations in a single gene, PKHD1. This gene encodes fibrocystin/polyductin (FPC, PD1), a large protein shown by in vitro studies to undergo Notch-like processing. Its cytoplasmic tail, reported to include a ciliary targeting sequence, a nuclear localization signal, and a polycystin-2 binding domain, is thought to traffic to the nucleus after cleavage. We now report a novel mouse line with a triple HA-epitope "knocked-in" to the C-terminus along with lox P sites flanking exon 67, which encodes most of the C-terminus (Pkhd1^Flox67HA). The triple HA-epitope has no functional effect as assayed by phenotype and allows in vivo tracking of Fibrocystin. We used the HA tag2017-01-01T00:00:00Z2017 Nov2026-05-04T20:46:50.219Z2019-03-27T00:05:05ZS-EPMC60051732872903210.1016/j.kint.2017.04.027