{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:34:22Z","timestamp":1763058862263,"version":"3.41.2"},"reference-count":70,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["EY012284","EY018825","EY02687"],"award-info":[{"award-number":["EY012284","EY018825","EY02687"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Core Grant for Vision Research"},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The Emory cataract (Em) mouse mutant has long been proposed as an animal model for age-related or senile cataract in humans\u2014a leading cause of visual impairment. However, the genetic defect(s) underlying the autosomal dominant Em phenotype remains elusive. Here, we confirmed development of the cataract phenotype in commercially available Em\/J mice [but not ancestral Carworth Farms White (CFW) mice] at 6\u20138 months of age and undertook whole-exome sequencing of candidate genes for Em. Analysis of coding and splice-site variants did not identify any disease-causing\/associated mutations in over 450 genes known to underlie inherited and age-related forms of cataract and other lens disorders in humans and mice, including genes for lens crystallins, membrane\/cytoskeleton proteins, DNA\/RNA-binding proteins, and those associated with syndromic\/systemic forms of cataract. However, we identified three cataract\/lens-associated genes each with one novel homozygous variant including predicted missense substitutions in Prx (p.R167C) and Adamts10 (p.P761L) and a disruptive in-frame deletion variant (predicted missense) in Abhd12 (p.L30_A32delinsS) that were absent in CFW and over 35 other mouse strains. In silico analysis predicted that the missense substitutions in Prx and Adamts10 were borderline neutral\/damaging and neutral, respectively, at the protein function level, whereas, that in Abhd12 was functionally damaging. Both the human counterparts of Adamts10 and Abhd12 are clinically associated with syndromic forms of cataract known as Weil-Marchesani syndrome 1 and polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract syndrome, respectively. Overall, while we cannot exclude Prx and Adamts10, our data suggest that Abhd12 is a promising candidate gene for cataract in the Em\/J mouse.<\/jats:p>","DOI":"10.1093\/g3journal\/jkad055","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T09:24:11Z","timestamp":1678353851000},"source":"Crossref","is-referenced-by-count":4,"title":["Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant"],"prefix":"10.1093","volume":"13","author":[{"given":"Thomas M","family":"Bennett","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Washington University School of Medicine , St. Louis, MO 63110 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuefang","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Washington University School of Medicine , St. Louis, MO 63110 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kacie J","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa , Iowa City, IA 52242 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael G","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa , Iowa City, IA 52242 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Shiels","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Washington University School of Medicine , St. Louis, MO 63110 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"issue":"6","key":"2024022108063065900_jkad055-B1","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1002\/humu.22071","article-title":"Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus","volume":"33","author":"Aldahmesh","year":"2012","journal-title":"Hum Mutat"},{"issue":"10","key":"2024022108063065900_jkad055-B2","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1007\/s00335-004-4002-8","article-title":"The Tyr (albino) locus of the laboratory mouse","volume":"15","author":"Beermann","year":"2004","journal-title":"Mamm Genome"},{"issue":"10","key":"2024022108063065900_jkad055-B3","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.exer.2014.07.020","article-title":"Regional changes of AQP0-dependent square array junction and gap junction associated 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