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Here, we further our studies on transmembrane protein 135 (<jats:italic>Tmem135<\/jats:italic>), a gene involved in retinal aging, by examining the transcriptomic profiles of wild-type, heterozygous and homozygous <jats:italic>Tmem135<\/jats:italic> mutant posterior eyecup samples through RNA sequencing (RNA-Seq). We found significant gene expression changes in both heterozygous and homozygous <jats:italic>Tmem135<\/jats:italic> mutant mouse eyecups that correlate with visual function deficits. Further analysis revealed that expression of many genes involved in lipid metabolism are changed due to the <jats:italic>Tmem135<\/jats:italic> mutation. Consistent with these changes, we found increased lipid accumulation in mutant T<jats:italic>mem135<\/jats:italic> eyecup samples. Since mutant <jats:italic>Tmem135<\/jats:italic> mice have similar ocular pathologies as human age-related macular degeneration (AMD) eyes, we compared our homozygous <jats:italic>Tmem135<\/jats:italic> mutant eyecup RNA-Seq dataset with transcriptomic datasets of human AMD donor eyes. We found similar changes in genes involved in lipid metabolism between the homozygous <jats:italic>Tmem135<\/jats:italic> mutant eyecups and AMD donor eyes. Our study suggests that the <jats:italic>Tmem135<\/jats:italic> mutation affects lipid metabolism as similarly observed in human AMD eyes, thus <jats:italic>Tmem135<\/jats:italic> mutant mice can serve as a good model for the role of dysregulated lipid metabolism in AMD.<\/jats:p>","DOI":"10.1038\/s41598-021-04644-3","type":"journal-article","created":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T11:02:40Z","timestamp":1642158160000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A mutation in transmembrane protein 135 impairs lipid metabolism in mouse eyecups"],"prefix":"10.1038","volume":"12","author":[{"given":"Michael","family":"Landowski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijesh J.","family":"Bhute","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Takimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Grindel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawan K.","family":"Shahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bikash R.","family":"Pattnaik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakae","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,14]]},"reference":[{"key":"4644_CR1","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1038\/gim.2015.117","volume":"18","author":"C Van Cauwenberghe","year":"2016","unstructured":"Van Cauwenberghe, C., Van Broeckhoven, C. & Sleegers, K. 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