{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:34:07Z","timestamp":1753878847159,"version":"3.41.2"},"reference-count":59,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T00:00:00Z","timestamp":1686873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30EY010572"],"award-info":[{"award-number":["P30EY010572"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000066","name":"National Institute of Environmental Health Sciences","doi-asserted-by":"publisher","award":["R01ES031086"],"award-info":[{"award-number":["R01ES031086"]}],"id":[{"id":"10.13039\/100000066","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["R01DC002368"],"award-info":[{"award-number":["R01DC002368"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Brain and Behavior"],"published-print":{"date-parts":[[2023,8]]},"abstract":"Abstract<\/jats:title>Relationships between novel phenotypic behaviors and specific genetic alterations are often discovered using target\u2010specific, directed mutagenesis or phenotypic selection following chemical mutagenesis. An alternative approach is to exploit deficiencies in DNA repair pathways that maintain genetic integrity in response to spontaneously induced damage. Mice deficient in the DNA glycosylase NEIL1 show elevated spontaneous mutations, which arise from translesion DNA synthesis past oxidatively induced base damage. Several litters of Neil1<\/jats:italic> knockout mice included animals that were distinguished by their backwards\u2010walking behavior in open\u2010field environments, while maintaining frantic forward movements in their home cage environment. Other phenotypic manifestations included swim test failures, head tilting and circling. Mapping of the mutation that conferred these behaviors showed the introduction of a stop codon at amino acid 4 of the Ush1g<\/jats:italic> gene. Ush1g<\/jats:italic>bw\/bw<\/jats:italic><\/jats:sup> null mice displayed auditory and vestibular defects that are commonly seen with mutations affecting inner\u2010ear hair\u2010cell function, including a complete lack of auditory brainstem responses and vestibular\u2010evoked potentials. As in other Usher syndrome type I mutant mouse lines, hair cell phenotypes included disorganized and split hair bundles, as well as altered distribution of proteins for stereocilia that localize to the tips of row 1 or row 2. Disruption to the bundle and kinocilium displacement suggested that USH1G is essential for forming the hair cell's kinocilial links. Consistent with other Usher type 1 models, Ush1g<\/jats:italic>bw\/bw<\/jats:italic><\/jats:sup> mice had no substantial retinal degeneration compared with Ush1g<\/jats:italic>bw<\/jats:italic><\/jats:sup>\/+ controls. In contrast to previously described Ush1g<\/jats:italic> alleles, this new allele provides the first knockout model for this gene.<\/jats:p>","DOI":"10.1111\/gbb.12849","type":"journal-article","created":{"date-parts":[[2023,6,17]],"date-time":"2023-06-17T04:42:01Z","timestamp":1686976921000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Spontaneous allelic variant in deafness\u2013blindness gene Ush1g<\/i> resulting in an expanded phenotype"],"prefix":"10.1111","volume":"22","author":[{"given":"Vladimir","family":"Vartanian","sequence":"first","affiliation":[{"name":"Oregon Institute of Occupational Health Sciences Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jocelyn F.","family":"Krey","sequence":"additional","affiliation":[{"name":"Oregon Hearing Research Center and Vollum Institute Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paroma","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Oregon Hearing Research Center and Vollum Institute Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison","family":"Curtis","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Casey Eye Institute Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makayla","family":"Six","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Casey Eye Institute Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean P. M.","family":"Rice","sequence":"additional","affiliation":[{"name":"Oregon Institute of Occupational Health Sciences and School of Public Health Oregon Health & Science University\u2010Portland State University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sherri M.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Special Education and Communication Disorders University of Nebraska\u2010Lincoln Lincoln Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harini","family":"Sampath","sequence":"additional","affiliation":[{"name":"Department of Nutritional Sciences and New Jersey Institute for Food, Nutrition, and Health Rutgers University New Brunswick New Jersey USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles N.","family":"Allen","sequence":"additional","affiliation":[{"name":"Oregon Institute of Occupational Health Sciences and Department of Behavioral Neuroscience Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renee C.","family":"Ryals","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Casey Eye Institute Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Stephen","family":"Lloyd","sequence":"additional","affiliation":[{"name":"Oregon Institute of Occupational Health Sciences Oregon Health & Science University Portland Oregon USA"},{"name":"Department of Molecular and Medical Genetics Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9787-5860","authenticated-orcid":false,"given":"Peter G.","family":"Barr\u2010Gillespie","sequence":"additional","affiliation":[{"name":"Oregon Hearing Research Center and Vollum Institute Oregon Health & Science University Portland Oregon USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,16]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_9_2_1","DOI":"10.1016\/bs.ctdb.2022.02.012"},{"doi-asserted-by":"publisher","key":"e_1_2_9_3_1","DOI":"10.1007\/s00335-021-09905-0"},{"doi-asserted-by":"publisher","key":"e_1_2_9_4_1","DOI":"10.3109\/10715762.2012.655730"},{"doi-asserted-by":"publisher","key":"e_1_2_9_5_1","DOI":"10.3390\/genes13050915"},{"doi-asserted-by":"publisher","key":"e_1_2_9_6_1","DOI":"10.3109\/10715762.2015.1014814"},{"doi-asserted-by":"publisher","key":"e_1_2_9_7_1","DOI":"10.1016\/j.mrrev.2017.02.001"},{"doi-asserted-by":"publisher","key":"e_1_2_9_8_1","DOI":"10.3390\/dna2040020"},{"doi-asserted-by":"publisher","key":"e_1_2_9_9_1","DOI":"10.1016\/j.dnarep.2016.10.010"},{"doi-asserted-by":"publisher","key":"e_1_2_9_10_1","DOI":"10.1073\/pnas.1620932114"},{"doi-asserted-by":"publisher","key":"e_1_2_9_11_1","DOI":"10.1038\/s41598-018-33151-1"},{"doi-asserted-by":"publisher","key":"e_1_2_9_12_1","DOI":"10.1016\/j.bbalip.2022.159195"},{"doi-asserted-by":"publisher","key":"e_1_2_9_13_1","DOI":"10.1016\/j.heares.2015.01.008"},{"doi-asserted-by":"publisher","key":"e_1_2_9_14_1","DOI":"10.1007\/s10162-010-0247-y"},{"doi-asserted-by":"publisher","key":"e_1_2_9_15_1","DOI":"10.1083\/jcb.201606036"},{"doi-asserted-by":"publisher","key":"e_1_2_9_16_1","DOI":"10.1016\/S0378-5955(99)00110-0"},{"doi-asserted-by":"publisher","key":"e_1_2_9_17_1","DOI":"10.1006\/geno.1999.5976"},{"doi-asserted-by":"publisher","key":"e_1_2_9_18_1","DOI":"10.1093\/hmg\/ddg051"},{"doi-asserted-by":"publisher","key":"e_1_2_9_19_1","DOI":"10.1007\/s00439-002-0690-x"},{"doi-asserted-by":"publisher","key":"e_1_2_9_20_1","DOI":"10.1038\/nrg2309"},{"doi-asserted-by":"publisher","key":"e_1_2_9_21_1","DOI":"10.1002\/0471142301.ns0821as34"},{"doi-asserted-by":"publisher","key":"e_1_2_9_22_1","DOI":"10.3766\/jaaa.25.3.8"},{"doi-asserted-by":"publisher","key":"e_1_2_9_23_1","DOI":"10.1242\/dev.012922"},{"doi-asserted-by":"publisher","key":"e_1_2_9_24_1","DOI":"10.1002\/cne.903500204"},{"doi-asserted-by":"publisher","key":"e_1_2_9_25_1","DOI":"10.1073\/pnas.97.24.13336"},{"doi-asserted-by":"publisher","key":"e_1_2_9_26_1","DOI":"10.7554\/eLife.24661"},{"doi-asserted-by":"publisher","key":"e_1_2_9_27_1","DOI":"10.1073\/pnas.1017114108"},{"doi-asserted-by":"publisher","key":"e_1_2_9_28_1","DOI":"10.1002\/wdev.202"},{"doi-asserted-by":"publisher","key":"e_1_2_9_29_1","DOI":"10.1242\/dev.139089"},{"doi-asserted-by":"publisher","key":"e_1_2_9_30_1","DOI":"10.1038\/ncomms14907"},{"doi-asserted-by":"publisher","key":"e_1_2_9_31_1","DOI":"10.1016\/j.cub.2019.01.051"},{"doi-asserted-by":"crossref","unstructured":"KreyJF ChatterjeeP HalfordJ CunninghamCL PerrinBJ Barr\u2010GillespiePG.Control of stereocilia length during development of hair bundles.bioRxiv. 2023; 520962.","key":"e_1_2_9_32_1","DOI":"10.1101\/2022.12.18.520962"},{"doi-asserted-by":"publisher","key":"e_1_2_9_33_1","DOI":"10.1073\/pnas.1104161108"},{"doi-asserted-by":"publisher","key":"e_1_2_9_34_1","DOI":"10.1073\/pnas.1304644110"},{"doi-asserted-by":"publisher","key":"e_1_2_9_35_1","DOI":"10.1038\/ncomms10833"},{"doi-asserted-by":"publisher","key":"e_1_2_9_36_1","DOI":"10.1091\/mbc.E21-10-0491"},{"doi-asserted-by":"publisher","key":"e_1_2_9_37_1","DOI":"10.1523\/JNEUROSCI.2782-09.2009"},{"doi-asserted-by":"publisher","key":"e_1_2_9_38_1","DOI":"10.1083\/jcb.201704171"},{"doi-asserted-by":"publisher","key":"e_1_2_9_39_1","DOI":"10.1016\/j.cub.2020.12.006"},{"doi-asserted-by":"publisher","key":"e_1_2_9_40_1","DOI":"10.1093\/oxfordjournals.jhered.a107550"},{"doi-asserted-by":"publisher","key":"e_1_2_9_41_1","DOI":"10.1093\/hmg\/ddg042"},{"doi-asserted-by":"publisher","key":"e_1_2_9_42_1","DOI":"10.1016\/j.visres.2007.08.021"},{"doi-asserted-by":"publisher","key":"e_1_2_9_43_1","DOI":"10.1007\/s00424-014-1552-9"},{"doi-asserted-by":"publisher","key":"e_1_2_9_44_1","DOI":"10.1093\/hmg\/ddi031"},{"doi-asserted-by":"publisher","key":"e_1_2_9_45_1","DOI":"10.1126\/science.1198848"},{"doi-asserted-by":"publisher","key":"e_1_2_9_46_1","DOI":"10.1073\/pnas.0911385107"},{"doi-asserted-by":"publisher","key":"e_1_2_9_47_1","DOI":"10.1016\/j.celrep.2019.09.027"},{"doi-asserted-by":"publisher","key":"e_1_2_9_48_1","DOI":"10.1023\/A:1007090626294"},{"doi-asserted-by":"publisher","key":"e_1_2_9_49_1","DOI":"10.1007\/s13258-011-0157-3"},{"doi-asserted-by":"publisher","key":"e_1_2_9_50_1","DOI":"10.1016\/j.visres.2007.08.015"},{"doi-asserted-by":"publisher","key":"e_1_2_9_51_1","DOI":"10.1083\/jcb.201202012"},{"doi-asserted-by":"publisher","key":"e_1_2_9_52_1","DOI":"10.1371\/journal.pone.0094272"},{"doi-asserted-by":"publisher","key":"e_1_2_9_53_1","DOI":"10.1038\/s41598-022-13689-x"},{"doi-asserted-by":"publisher","key":"e_1_2_9_54_1","DOI":"10.15252\/emmm.202114817"},{"doi-asserted-by":"publisher","key":"e_1_2_9_55_1","DOI":"10.1002\/cne.22456"},{"doi-asserted-by":"publisher","key":"e_1_2_9_56_1","DOI":"10.1242\/dev.060061"},{"doi-asserted-by":"publisher","key":"e_1_2_9_57_1","DOI":"10.1152\/physiol.00037.2011"},{"doi-asserted-by":"publisher","key":"e_1_2_9_58_1","DOI":"10.1093\/hmg\/dds084"},{"doi-asserted-by":"publisher","key":"e_1_2_9_59_1","DOI":"10.1523\/JNEUROSCI.4251-05.2006"},{"doi-asserted-by":"publisher","key":"e_1_2_9_60_1","DOI":"10.1016\/j.cub.2019.11.076"}],"container-title":["Genes, Brain and Behavior"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/gbb.12849","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T22:35:55Z","timestamp":1692225355000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/gbb.12849"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,16]]},"references-count":59,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["10.1111\/gbb.12849"],"URL":"https:\/\/doi.org\/10.1111\/gbb.12849","archive":["Portico"],"relation":{},"ISSN":["1601-1848","1601-183X"],"issn-type":[{"type":"print","value":"1601-1848"},{"type":"electronic","value":"1601-183X"}],"subject":[],"published":{"date-parts":[[2023,6,16]]},"assertion":[{"value":"2023-03-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e12849"}}