{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T07:10:20Z","timestamp":1777792220735,"version":"3.51.4"},"reference-count":62,"publisher":"The Company of Biologists","issue":"8","license":[{"start":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T00:00:00Z","timestamp":1755561600000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"crossref","award":["083474\/Z\/07\/Z"],"award-info":[{"award-number":["083474\/Z\/07\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000268","name":"BBSRC","doi-asserted-by":"crossref","award":["BB\/Y002504\/1"],"award-info":[{"award-number":["BB\/Y002504\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Versus Arthritis Senior Fellowship","award":["21937"],"award-info":[{"award-number":["21937"]}]},{"name":"Versus Arthritis Career Development Fellowship","award":["23115"],"award-info":[{"award-number":["23115"]}]},{"name":"University of Bristol Wolfson Bioimaging Facility"},{"DOI":"10.13039\/501100000883","name":"University of Bristol","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000883","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,15]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>LMX1B, a LIM-homeodomain family transcription factor, plays critical roles in the development of multiple tissues, including limbs, eyes, kidneys, brain, and spinal cord. Mutations in the human LMX1B gene cause the rare autosomal-dominant disorder Nail-patella syndrome, which affects development of limbs, eyes, brain, and kidneys. In zebrafish, lmx1b has two paralogues: lmx1ba and lmx1bb. While lmx1b morpholino data exists, stable mutants were previously lacking. Here, we describe the characterisation of lmx1b stable mutant lines, with a focus on development of tissues that are affected in Nail-patella syndrome. We demonstrate that the lmx1b paralogues have divergent developmental roles in zebrafish, with lmx1ba affecting skeletal and neuronal development, and lmx1bb affecting renal development. The double mutant, representing loss of both paralogues (lmx1b dKO) showed a stronger phenotype, which included additional defects to trunk muscle patterning, and a failure to fully inflate the notochord leading to a dramatic reduction in body length. Overall, these mutant lines demonstrate the utility of zebrafish for modelling Nail-patella syndrome and describe a previously undescribed role for lmx1b in notochord cell inflation.<\/jats:p>","DOI":"10.1242\/bio.062038","type":"journal-article","created":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T13:40:21Z","timestamp":1755610821000},"source":"Crossref","is-referenced-by-count":1,"title":["Characterisation of <i>lmx1b<\/i> paralogues in zebrafish reveals divergent roles in skeletal, kidney and muscle development"],"prefix":"10.1242","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1690-6512","authenticated-orcid":false,"given":"Joanna J.","family":"Moss","sequence":"first","affiliation":[{"name":"University of Bristol 1 School of Physiology, Pharmacology and Neuroscience , , Bristol, BS8 1TD ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6604-280X","authenticated-orcid":false,"given":"Chris R.","family":"Neal","sequence":"additional","affiliation":[{"name":"University Walk, University of Bristol 2 Wolfson Bioimaging Facility, Faculty of Life Sciences , , Bristol BS8 1TD ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0266-9424","authenticated-orcid":false,"given":"Erika","family":"Kague","sequence":"additional","affiliation":[{"name":"University of Bristol 1 School of Physiology, Pharmacology and Neuroscience , , Bristol, BS8 1TD ,","place":["UK"]},{"name":"Institute of Genetics and Cancer, University of Edinburgh 3 Centre for Genomic and Experimental Medicine , , EH4 2XR Scotland ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6828-5888","authenticated-orcid":false,"given":"Jon D.","family":"Lane","sequence":"additional","affiliation":[{"name":"School of Biochemistry, University of Bristol 4 , Bristol, BS8 1TD ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4935-6724","authenticated-orcid":false,"given":"Chrissy L.","family":"Hammond","sequence":"additional","affiliation":[{"name":"University of Bristol 1 School of Physiology, Pharmacology and Neuroscience , , Bristol, BS8 1TD ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2025,8,19]]},"reference":[{"key":"2025101403120285400_BIO062038C1","doi-asserted-by":"publisher","first-page":"1857","DOI":"10.1242\/dev.127.9.1857","article-title":"The transcription factor Lmx1b maintains Wnt1 expression within the isthmic organizer","volume":"127","author":"Adams","year":"2000","journal-title":"Development"},{"key":"2025101403120285400_BIO062038C2","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1177\/0023677219869037","article-title":"Zebrafish: housing and husbandry recommendations","volume":"54","author":"Alestr\u00f6m","year":"2020","journal-title":"Lab. 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Nephrol."},{"key":"2025101403120285400_BIO062038C6","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1038\/sj.ejhg.5201446","article-title":"Genotype\u2013phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy","volume":"13","author":"Bongers","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"2025101403120285400_BIO062038C7","doi-asserted-by":"publisher","first-page":"1830","DOI":"10.1681\/ASN.2012080788","article-title":"LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys","volume":"24","author":"Burghardt","year":"2013","journal-title":"J. Am. Soc. Nephrol."},{"key":"2025101403120285400_BIO062038C8","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1007\/s00438-013-0771-7","article-title":"Integration of genomic and functional approaches reveals enhancers at LMX1A and LMX1B","volume":"288","author":"Burzynski","year":"2013","journal-title":"Mol. 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