{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T12:56:09Z","timestamp":1769000169752,"version":"3.49.0"},"reference-count":50,"publisher":"Portland Press Ltd.","issue":"2","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,10,15]]},"abstract":"<jats:p>From our stock of SDRs (Sprague\u2013Dawley rats), we established a mutant strain having small opaque eyes and named it HiSER (Hirosaki small-eye rat). The HiSER phenotype is progressive and autosomal recessive. In HiSER eyes, disruption and involution of the lens, thickening of the inner nuclear layer, detachment and aggregation of the retina, rudimentary muscle in the ciliary body and cell infiltration in the vitreous humour were observed. Genetic linkage analysis using crossing with Brown Norway rat suggested that the causative gene(s) is located on chromosome 10. Microarray analysis showed that the expression level of the Cryba1 gene encoding \u03b2A3\/A1-crystallin on chromosome 10 was markedly decreased in HiSER eyes. Genomic PCR revealed deletion of a 3.6-kb DNA region encompassing exons 4\u20136 of the gene in HiSERs. In HiSER eyes, a chimaeric transcript of the gene containing exons 1\u20133 and an approximately 250-bp sequence originating from the 3\u2032-UTR of the Nufip2 gene, located downstream of the breakpoint in the opposite direction, was present. Whereas the chimaeric transcript was expressed in HiSER eyes, neither normal nor chimaeric \u03b2A3\/A1-crystallin proteins were detected by Western blot analysis. Real-time RT (reverse transcription)\u2013PCR analysis revealed that expression level of the Nufip2 gene in the HiSER eye was 40% of that in the SDR eye. These results suggest that the disappearance of the \u03b2A3\/A1-crystallin protein and, in addition, down-regulation of the Nufip2 gene as a consequence of gene rearrangement causes the HiSER phenotype.<\/jats:p>","DOI":"10.1042\/bj20150165","type":"journal-article","created":{"date-parts":[[2015,8,25]],"date-time":"2015-08-25T00:38:37Z","timestamp":1440463117000},"page":"293-305","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Establishment of a recessive mutant small-eye rat with lens involution and retinal detachment associated with partial deletion and rearrangement of the <i>Cryba1<\/i> gene"],"prefix":"10.1042","volume":"471","author":[{"given":"Toshiyuki","family":"Yamada","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Genome Biology, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Nanashima","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genome Biology, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan"},{"name":"Department of Biomedical Science, Hirosaki University Graduate School of Health Science, Hirosaki 036-8564, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genome Biology, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Nakazawa","sequence":"additional","affiliation":[{"name":"Department of Molecular Function and Physiology, Faculty of Pharmacy, Keio University, Tokyo 105-8512, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuru","family":"Nakazawa","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeki","family":"Tsuchida","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genome Biology, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2015,10,2]]},"reference":[{"key":"2021112216241752700_B1","volume-title":"General Ophthalmology","author":"Vaughan","year":"2004","edition":"16th edn"},{"key":"2021112216241752700_B2","volume-title":"Medical Embryology","author":"Sadler","year":"2012","edition":"12th edn"},{"key":"2021112216241752700_B3","volume-title":"Human Embryology","author":"Larsen","year":"2001","edition":"3rd edn"},{"key":"2021112216241752700_B4","volume-title":"Human Embryology and Teratology","author":"O'Rahilly","year":"1996","edition":"2nd edn"},{"key":"2021112216241752700_B5","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1146\/annurev.cellbio.17.1.255","article-title":"Early eye development in vertebrates","volume":"17","author":"Chow","year":"2001","journal-title":"Annu. 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