{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T16:47:37Z","timestamp":1785775657133,"version":"3.56.0"},"reference-count":255,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000156","name":"Fonds de recherche du Qu\u00e9bec\u2014Sant\u00e9","doi-asserted-by":"publisher","award":["347103"],"award-info":[{"award-number":["347103"]}],"id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"award":["347103"],"award-info":[{"award-number":["347103"]}],"id":[{"id":"https:\/\/ror.org\/02eqrsj93","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000191","name":"Kidney Foundation of Canada","doi-asserted-by":"publisher","award":["24KHRG-1255923"],"award-info":[{"award-number":["24KHRG-1255923"]}],"id":[{"id":"10.13039\/501100000191","id-type":"DOI","asserted-by":"publisher"}]},{"award":["24KHRG-1255923"],"award-info":[{"award-number":["24KHRG-1255923"]}],"id":[{"id":"https:\/\/ror.org\/019a0gk53","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of pediatric chronic kidney disease (CKD) and comprise a heterogeneous group of developmental disorders with a substantial genetic contribution. Advances in next-generation sequencing have facilitated the identification of numerous candidate genes and rare variants associated with CAKUT. However, establishing causality and defining the biological functions of implicated genes remain major challenges. Functional validation is therefore essential to bridge the gap between gene discovery and mechanistic understanding, enabling the interpretation of genetic variation within the context of kidney development and disease. The zebrafish (Danio rerio) has emerged as a powerful in vivo model for studying renal development and interrogating the function of CAKUT-associated genes. Its utility stems from a high degree of genetic and developmental conservation with humans, conserved nephrogenic pathways, optical transparency during embryogenesis, and the relative ease of genetic manipulation. In this review, we provide an overview of zebrafish kidney development within the broader context of vertebrate nephrogenesis, highlighting the key genetic programs governing intermediate mesoderm specification, nephron segmentation, and pronephric morphogenesis. We then systematically examine CAKUT-associated genes that have been modeled in zebrafish, focusing on studies that have linked genetic perturbations to renal development and structural phenotypes. Finally, we discuss the strengths and limitations of zebrafish models for functional genomics and variant interpretation and consider their emerging role in bridging genetic discovery with mechanistic insights into CAKUT pathogenesis.<\/jats:p>","DOI":"10.3390\/genes17080867","type":"journal-article","created":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T16:11:56Z","timestamp":1785168716000},"page":"867","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Swimming Upstream to Understand Congenital Anomalies of the Kidney and Urinary Tract: Zebrafish Models for Developmental Biology, Disease Mechanisms, and Functional Interpretation of Genetic Variation"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5722-0971","authenticated-orcid":false,"given":"Zachary W.","family":"Nurcombe","sequence":"first","affiliation":[{"name":"Department of Human Genetics, McGill University, 845 Sherbrooke St. W, Montreal, QC H3A 0G4, Canada"},{"name":"Research Institute of the McGill University Health Centre, 1001 Blvd. D\u00e9carie, Montreal, QC H4A 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9121-2853","authenticated-orcid":false,"given":"Lina","family":"Mougharbel","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Centre, 1001 Blvd. D\u00e9carie, Montreal, QC H4A 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1537-5237","authenticated-orcid":false,"given":"Thomas M.","family":"Kitzler","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, 845 Sherbrooke St. W, Montreal, QC H3A 0G4, Canada"},{"name":"Research Institute of the McGill University Health Centre, 1001 Blvd. D\u00e9carie, Montreal, QC H4A 0B1, Canada"},{"name":"Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, 1001 Blvd. D\u00e9carie, Montreal, QC H4A 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1007\/s00467-014-2884-6","article-title":"Demographics of Paediatric Renal Replacement Therapy in Europe: A Report of the ESPN\/ERA\u2013EDTA Registry","volume":"29","author":"Chesnaye","year":"2014","journal-title":"Pediatr. 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