{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T13:02:15Z","timestamp":1780405335869,"version":"3.54.1"},"reference-count":45,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T00:00:00Z","timestamp":1617753600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001824","name":"Grantov\u00e1 Agentura \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["17-13491S"],"award-info":[{"award-number":["17-13491S"]}],"id":[{"id":"10.13039\/501100001824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["Progres Q25\/LF1"],"award-info":[{"award-number":["Progres Q25\/LF1"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["RVO64165"],"award-info":[{"award-number":["RVO64165"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["RVO 68378050, LM2018126 and OP RDI CZ.1.05 \/ 2.1.00 \/ 19.0395 and CZ.1.05 \/ 1.1.00 \/ 02.0109"],"award-info":[{"award-number":["RVO 68378050, LM2018126 and OP RDI CZ.1.05 \/ 2.1.00 \/ 19.0395 and CZ.1.05 \/ 1.1.00 \/ 02.0109"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>NME7 (non-metastatic cells 7, nucleoside diphosphate kinase 7) is a member of a gene family with a profound effect on health\/disease status. NME7 is an established member of the ciliome and contributes to the regulation of the microtubule-organizing center. We aimed to create a rat model to further investigate the phenotypic consequences of Nme7 gene deletion. The CRISPR\/Cas9 nuclease system was used for the generation of Sprague Dawley Nme7 knock-out rats targeting the exon 4 of the Nme7 gene. We found the homozygous Nme7 gene deletion to be semi-lethal, as the majority of SDNme7\u2212\/\u2212 pups died prior to weaning. The most prominent phenotypes in surviving SDNme7\u2212\/\u2212 animals were hydrocephalus, situs inversus totalis, postnatal growth retardation, and sterility of both sexes. Thinning of the neocortex was histologically evident at 13.5 day of gestation, dilation of all ventricles was detected at birth, and an external sign of hydrocephalus, i.e., doming of the skull, was usually apparent at 2 weeks of age. Heterozygous SDNme7+\/\u2212 rats developed normally; we did not detect any symptoms of primary ciliary dyskinesia. The transcriptomic profile of liver and lungs corroborated the histological findings, revealing defects in cell function and viability. In summary, the knock-out of the rat Nme7 gene resulted in a range of conditions consistent with the presentation of primary ciliary dyskinesia, supporting the previously implicated role of the centrosomally located Nme7 gene in ciliogenesis and control of ciliary transport.<\/jats:p>","DOI":"10.3390\/ijms22083810","type":"journal-article","created":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T11:31:59Z","timestamp":1617795119000},"page":"3810","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene"],"prefix":"10.3390","volume":"22","author":[{"given":"Lucie","family":"\u0160edov\u00e1","sequence":"first","affiliation":[{"name":"Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"},{"name":"Institute of Biology and Medical Genetics, The First Faculty of Medicine, Charles University and the General University Hospital, 128 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Bukov\u00e1","sequence":"additional","affiliation":[{"name":"Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4221-1370","authenticated-orcid":false,"given":"Pavla","family":"Ba\u017eantov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, The First Faculty of Medicine, Charles University and the General University Hospital, 128 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3054-540X","authenticated-orcid":false,"given":"Silvia","family":"Petrezs\u00e9lyov\u00e1","sequence":"additional","affiliation":[{"name":"Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"},{"name":"Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Prochazka","sequence":"additional","affiliation":[{"name":"Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"\u0160koln\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"},{"name":"Institute of Biology and Medical Genetics, The First Faculty of Medicine, Charles University and the General University Hospital, 128 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Zudov\u00e1","sequence":"additional","affiliation":[{"name":"Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"V\u010del\u00e1k","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, Institute of Endocrinology, 116 94 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavol","family":"Makovick\u00fd","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Education, J. Selye University, 945 01 Komarno, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u011bla","family":"Bendlov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, Institute of Endocrinology, 116 94 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8498-5895","authenticated-orcid":false,"given":"Ond\u0159ej","family":"\u0160eda","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, The First Faculty of Medicine, Charles University and the General University Hospital, 128 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radislav","family":"Sedlacek","sequence":"additional","affiliation":[{"name":"Laboratory of Transgenic Models of Diseases, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"},{"name":"Czech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, v.v.i., 252 50 Vestec, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1126\/science.1084576","article-title":"A human syndrome caused by immotile cilia","volume":"193","author":"Afzelius","year":"1976","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat. 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