{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Outeda P"],"funding":["Intramural NIH HHS","NIDDK NIH HHS"],"pagination":["1130-1144"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6005173"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["92(5)"],"pubmed_abstract":["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<sup>Flox67HA</sup>). The triple HA-epitope has no functional effect as assayed by phenotype and allows in vivo tracking of Fibrocystin. We used the HA tag"],"journal":["Kidney international"],"pubmed_title":["A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism."],"pmcid":["PMC6005173"],"funding_grant_id":["P30 DK090868","K23 DK109203","R01 DK095036","R01 DK062199","R01 DK076017","R01 DK051259","P30 DK079310","ZIA DK075042"],"pubmed_authors":["Watnick T","Outeda P","Bridges S","Qian F","Germino GG","Hartung EA","Zhu X","Zhou F","Yao Q","Menezes L","Xu H","Huang Q"],"additional_accession":[]},"is_claimable":false,"name":"A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.","description":"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<sup>Flox67HA</sup>). The triple HA-epitope has no functional effect as assayed by phenotype and allows in vivo tracking of Fibrocystin. We used the HA tag","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Nov","modification":"2026-05-04T20:46:50.219Z","creation":"2019-03-27T00:05:05Z"},"accession":"S-EPMC6005173","cross_references":{"pubmed":["28729032"],"doi":["10.1016/j.kint.2017.04.027"]}}