{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T13:19:48Z","timestamp":1776691188366,"version":"3.51.2"},"reference-count":47,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T00:00:00Z","timestamp":1733270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Here, we describe a spontaneous mouse mutant with a deletion in a predicted gene <jats:italic>2310061I04Rik<\/jats:italic> (<jats:italic>Rik<\/jats:italic>) of unknown function located on chromosome 17. A 59 base pair long deletion occurred in the first intron of the <jats:italic>Rik<\/jats:italic> gene and disrupted its expression. <jats:italic>Rik<\/jats:italic><jats:sup><jats:italic>null<\/jats:italic><\/jats:sup> mice were born healthy and appeared anatomically normal up to two weeks of age. After that, these mice showed inhibited growth, ataxic gait, and died shortly after postnatal day 24 (P24). Transcriptome analysis at P14 and P23 revealed significantly reduced expression of mitochondrial genes in <jats:italic>Rik<\/jats:italic><jats:sup><jats:italic>null<\/jats:italic><\/jats:sup> brains compared to wild type controls including <jats:italic>mt-Nd4<\/jats:italic>, <jats:italic>mt-Cytb<\/jats:italic>, <jats:italic>mt-Nd2<\/jats:italic>, <jats:italic>mt-Co1<\/jats:italic>, <jats:italic>mt-Atp6<\/jats:italic>, and others. Similarly, genes specific for myelinating oligodendrocytes also showed reduced expression in P23 <jats:italic>Rik<\/jats:italic><jats:sup><jats:italic>null<\/jats:italic><\/jats:sup> brains compared to controls. Histological examination of anterior thalamic nuclei demonstrated decreased myelination of anteroventral nuclei but not of anterodorsal nuclei in P23 <jats:italic>Rik<\/jats:italic><jats:sup><jats:italic>null<\/jats:italic><\/jats:sup> mice. Myelination of the anterior commissure was also impaired and displayed extensive vacuolation. Consistently with these findings, immunohistochemistry showed reduced expression of Opalin, a glycoprotein expressed in differentiated oligodendrocytes. Taken together, these results suggest that RIK is important for oligodendrocyte maturation and myelination in the developing brain.<\/jats:p>","DOI":"10.1371\/journal.pone.0290487","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T21:01:37Z","timestamp":1733346097000},"page":"e0290487","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":1,"title":["Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination"],"prefix":"10.1371","volume":"19","author":[{"given":"Erdyni N.","family":"Tsitsikov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khanh P.","family":"Phan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yufeng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alla V.","family":"Tsytsykova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalia","family":"Paterno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David M.","family":"Sherry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony C.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0275-6736","authenticated-orcid":true,"given":"Ian F.","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2024,12,4]]},"reference":[{"key":"pone.0290487.ref001","doi-asserted-by":"crossref","first-page":"1041961","DOI":"10.3389\/fchem.2022.1041961","article-title":"Overview of myelin, major myelin lipids, and myelin-associated proteins","volume":"10","author":"A Kister","year":"2022","journal-title":"Front Chem"},{"issue":"5","key":"pone.0290487.ref002","doi-asserted-by":"crossref","DOI":"10.3390\/ijms24054908","article-title":"Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases","volume":"24","author":"M. 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