{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T12:58:33Z","timestamp":1789563513097,"version":"build-2803163510"},"reference-count":31,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T00:00:00Z","timestamp":1721088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"JSPS KAKENHI","award":["18H04939"],"award-info":[{"award-number":["18H04939"]}]},{"name":"JSPS KAKENHI","award":["21H02652"],"award-info":[{"award-number":["21H02652"]}]},{"name":"Interdisciplinary Joint Research Project from the Brain Research Institute, Niigata University","award":["18H04939"],"award-info":[{"award-number":["18H04939"]}]},{"name":"Interdisciplinary Joint Research Project from the Brain Research Institute, Niigata University","award":["21H02652"],"award-info":[{"award-number":["21H02652"]}]},{"name":"Kyowa-kai grant (Niigata University)","award":["18H04939"],"award-info":[{"award-number":["18H04939"]}]},{"name":"Kyowa-kai grant (Niigata University)","award":["21H02652"],"award-info":[{"award-number":["21H02652"]}]},{"name":"MEXT scholarship","award":["18H04939"],"award-info":[{"award-number":["18H04939"]}]},{"name":"MEXT scholarship","award":["21H02652"],"award-info":[{"award-number":["21H02652"]}]},{"name":"Advanced Animal Model Support (AdAMS)","award":["18H04939"],"award-info":[{"award-number":["18H04939"]}]},{"name":"Advanced Animal Model Support (AdAMS)","award":["21H02652"],"award-info":[{"award-number":["21H02652"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The Vps13a gene encodes a lipid transfer protein called VPS13A, or chorein, associated with mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), mitochondria\u2013endosomes, and lipid droplets. This protein plays a crucial role in inter-organelle communication and lipid transport. Mutations in the VPS13A gene are implicated in the pathogenesis of chorea-acanthocytosis (ChAc), a rare autosomal recessive neurodegenerative disorder characterized by chorea, orofacial dyskinesias, hyperkinetic movements, seizures, cognitive impairment, and acanthocytosis. Previous mouse models of ChAc have shown variable disease phenotypes depending on the genetic background. In this study, we report the generation of a Vps13a flox allele in a pure C57BL\/6N mouse background and the subsequent creation of Vps13a knockout (KO) mice via Cre-recombination. Our Vps13a KO mice exhibited increased reticulocytes but not acanthocytes in peripheral blood smears. Additionally, there were no significant differences in the GFAP- and Iba1-positive cells in the striatum, the basal ganglia of the central nervous system. Interestingly, we observed abnormal spermatogenesis leading to male infertility. These findings indicate that Vps13a KO mice are valuable models for studying male infertility and some hematological aspects of ChAc.<\/jats:p>","DOI":"10.3390\/ijms25147776","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T11:31:57Z","timestamp":1721129517000},"page":"7776","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Analysis of Brain, Blood, and Testis Phenotypes Lacking the Vps13a Gene in C57BL\/6N Mice"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5434-0805","authenticated-orcid":false,"given":"Jitrapa","family":"Pinyomahakul","sequence":"first","affiliation":[{"name":"Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Ise","sequence":"additional","affiliation":[{"name":"Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meiko","family":"Kawamura","sequence":"additional","affiliation":[{"name":"Department of Animal Model Development, Brain Research Institute, Niigata University, Niigata 951-8585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Hematology, Endocrinology and Metabolism, Faculty of Medicine, Niigata University, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1231-7019","authenticated-orcid":false,"given":"Kentaro","family":"Okuyama","sequence":"additional","affiliation":[{"name":"Division of Microscopic Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1185-9043","authenticated-orcid":false,"given":"Shinsuke","family":"Shibata","sequence":"additional","affiliation":[{"name":"Division of Microscopic Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Takizawa","sequence":"additional","affiliation":[{"name":"Department of Hematology, Endocrinology and Metabolism, Faculty of Medicine, Niigata University, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manabu","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Animal Model Development, Brain Research Institute, Niigata University, Niigata 951-8585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Sakimura","sequence":"additional","affiliation":[{"name":"Department of Animal Model Development, Brain Research Institute, Niigata University, Niigata 951-8585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4493-6604","authenticated-orcid":false,"given":"Hirohide","family":"Takebayashi","sequence":"additional","affiliation":[{"name":"Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan"},{"name":"Center for Coordination of Research Facilities, Niigata University, Niigata 951-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1097\/01.wco.0000173464.01888.e9","article-title":"Neuroacanthocytosis","volume":"18","author":"Danek","year":"2005","journal-title":"Curr. 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