{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:21Z","timestamp":1777857021043,"version":"3.51.4"},"reference-count":63,"publisher":"SAGE Publications","issue":"s2","license":[{"start":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T00:00:00Z","timestamp":1638230400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2021,11,30]]},"abstract":"<jats:p>Mutations in the Anoctamin 5 (Ano5) gene that result in the lack of expression or function of ANO5 protein, cause Limb Girdle Muscular Dystrophy (LGMD) 2L\/R12, and Miyoshi Muscular Dystrophy (MMD3). However, the dystrophic phenotype observed in patient muscles is not uniformly recapitulated by ANO5 knockout in animal models of LGMD2L. Here we describe the generation of a mouse model of LGMD2L generated by targeted out-of-frame deletion of the Ano5 gene. This model shows progressive muscle loss, increased muscle weakness, and persistent bouts of myofiber regeneration without chronic muscle inflammation, which recapitulates the mild to moderate skeletal muscle dystrophy reported in the LGMD2L patients. We show that these features of ANO5 deficient muscle are not associated with a change in the calcium-activated sarcolemmal chloride channel activity or compromised in vivo regenerative myogenesis. Use of this mouse model allows conducting in vivo investigations into the functional role of ANO5 in muscle health and for preclinical therapeutic development for LGMD2L.<\/jats:p>","DOI":"10.3233\/jnd-210720","type":"journal-article","created":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T19:49:37Z","timestamp":1633636177000},"page":"S243-S255","source":"Crossref","is-referenced-by-count":8,"title":["Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits"],"prefix":"10.1177","volume":"8","author":[{"given":"Girija","family":"Thiruvengadam","sequence":"first","affiliation":[{"name":"Center of Genetic Medicine Research, Children\u2019s National Hospital, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sen Chandra","family":"Sreetama","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine Research, Children\u2019s National Hospital, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karine","family":"Charton","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9thon INSERM, U951, INTEGRARE Research Unit, University Paris-Saclay, Evry, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marshall","family":"Hogarth","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine Research, Children\u2019s National Hospital, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James S.","family":"Novak","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine Research, Children\u2019s National Hospital, Washington, DC"},{"name":"Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Suel-Petat","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9thon INSERM, U951, INTEGRARE Research Unit, University Paris-Saclay, Evry, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goutam","family":"Chandra","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine Research, Children\u2019s National Hospital, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Allard","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Lyon, Universit\u00e9 Claude Bernard Lyon 1, Institut NeuroMyoGene, Centre National de la Recherche Scientifique, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Lyon, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Richard","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9thon INSERM, U951, INTEGRARE Research Unit, University Paris-Saclay, Evry, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jyoti K.","family":"Jaiswal","sequence":"additional","affiliation":[{"name":"Center of Genetic Medicine Research, Children\u2019s National Hospital, Washington, DC"},{"name":"Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington DC"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"issue":"1","key":"10.3233\/JND-210720_ref1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/0960-8966(93)E0006-G","article-title":"Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limbgirdle dystrophies","volume":"5","author":"Bushby","year":"1995","journal-title":"Neuromuscular Disorders"},{"issue":"4","key":"10.3233\/JND-210720_ref2","first-page":"207","article-title":"LGMD. 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