Abstract:
PURPOSE:As in human populations, in which founder mutations have been identified in groups of families, a number of founder mutations have been observed across strains in mice. In this report, we provide a phenotype and genotype survey of three common eye diseases in the collection of JAX mice strains at The Jackson Laboratory (JAX). These eye diseases are retinal degeneration 1 (Pde6b(rd1)), retinal degeneration 8 (Crb1(rd8)), and cone photoreceptor function loss 3 (Gnat2(cpfl3)). METHODS:Ocular lesions for rd1 and rd8 were evaluated by fundus examination and fundus photography, and the abnormal retinal function observed in mice homozygous for cpfl3 was assessed by ERG. Genotyping protocols for rd1, rd8, and cpfl3 mutations were performed by PCR with appropriate primers. RESULTS:We have actively screened retired breeders for surface dysmorphologies, and for intraocular defects by indirect ophthalmoscopy, slit-lamp biomicroscopy, and ERG to discover new spontaneous mutations in strains from the Genetic Resource Science (GRS) production colony. Through this process, we have found that of the strains screened, 99 strains carried the rd1 mutation, 85 strains carried the rd8 mutation, and 20 strains carried the cpfl3 mutation. CONCLUSIONS:Of the 1000 of strains screened during this study, 204 carried one of three founder mutations in Pde6b, Crb1, or Gnat2. Since these three retinal mutations occur commonly in various mouse strains, genotyping for these mutations, and/or avoiding mouse strains or stocks carrying these mutant alleles when studying new retinal disorders is recommended. The robust PCR genotyping protocols to test for these common alleles are described herein.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Chang B,Hurd R,Wang J,Nishina Pdoi
10.1167/iovs.13-12289subject
Has Abstractpub_date
2013-07-24 00:00:00pages
4974-81issue
7eissn
0146-0404issn
1552-5783pii
iovs.13-12289journal_volume
54pub_type
杂志文章abstract:Purpose:We investigated the cross-sectional associations between macular pigment optical density (MPOD), plasma lutein (L), and zeaxanthin (Z) concentrations and cognitive function in 184 older adults of the 3-City-Bordeaux cohort. Methods:MPOD was measured using the two-wavelength autofluorescence method with a modif...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.17-22656
更新日期:2018-04-01 00:00:00
abstract:PURPOSE:To determine the association between ocular dominance and spherical or astigmatic anisometropia, age, and sex. METHODS:Medical records of 10,264 myopic refractive surgery candidates were filtered. Ocular dominance was assessed with the hole-in-the-card test. Manifest refractive error was measured in each subje...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8131
更新日期:2011-11-25 00:00:00
abstract:PURPOSE:The RAS association domain family 1 (RASSF1) gene is a tumor-suppressor gene located on chromosome 3p21.3. The alternative transcript (RASSF1a) has been shown to be inactivated by hypermethylation in several human malignancies, including breast, prostate, and lung cancer, and in cutaneous melanoma. The purpose ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0781
更新日期:2007-02-01 00:00:00
abstract::Diabetes mellitus has been shown to be a factor in the development of corneal epithelial abnormalities in stressed human eyes, but the biochemical basis for this is not known. To see if sorbitol pathway activation might be involved, ocular surface epithelial healing rates and metabolites of the glycolytic and sorbitol...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:1981-08-01 00:00:00
abstract:PURPOSE:The purpose of this study was to examine the test-retest repeatability of microperimetric sensitivity at the border of deep scotomas. METHODS:Thirty normal participants underwent two examinations, each on the Macular Integrity Assessment (MAIA) microperimeter and on the MP-1 microperimeter (four examinations i...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.14-15977
更新日期:2015-04-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 临床试验,杂志文章
doi:10.1167/iovs.08-2752
更新日期:2009-06-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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更新日期:2009-03-01 00:00:00
abstract::Purpose. Super-selective intra-ophthalmic artery chemotherapy (SSIOAC) is an eye-targeted drug-delivery strategy to treat retinoblastoma, the most prevalent primary ocular malignancy in children. Unfortunately, recent clinical reports associate adverse vascular toxicities with SSIOAC using melphalan, the most commonly...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2012-04-30 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0893
更新日期:2007-02-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2003-02-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0301
更新日期:2006-10-01 00:00:00
abstract:PURPOSE:To determine quantitatively forward light scattering in the human lens as a function of depth. To use this to explain the psychophysical result, verified earlier in vitro, showing total light scattering in the human lens to decrease with scattering angle according to an approximate power law (power -2). METHOD...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract:PURPOSE:To determine global mRNA expression levels in corneal and conjunctival epithelia and identify transcripts that exhibit preferential tissue expression. METHODS:cDNA samples derived from human conjunctival and corneal epithelia were hybridized in three independent experiments to a commercial oligonucleotide arra...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.06-0998
更新日期:2007-05-01 00:00:00
abstract:PURPOSE:To determine the distribution of invasive and cytotoxic genotypes among ocular isolates of P. aeruginosa and investigate the influence of the type III secretion system (T3SS) on adhesion to conventional, cosmetic, and silicone hydrogel contact lenses (CL). METHODS:Clinical isolates from 2001 to 2010 were analy...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8184
更新日期:2012-09-21 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.11-8654
更新日期:2011-12-28 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:1988-12-01 00:00:00
abstract:PURPOSE:To understand the involvement of the CYP1B1 gene in cases of primary open-angle (POAG) and primary angle-closure (PACG) glaucomas and obtain the haplotype background of these mutations. METHODS:The entire coding region of CYP1B1 was screened by resequencing in 224 unrelated cases of POAG (n = 134) and PACG (n ...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.07-0629
更新日期:2007-12-01 00:00:00
abstract:PURPOSE:Neovascular age-related macular degeneration (AMD) resulting in decreased central vision severely impairs affected individuals. Current standard treatment is an intravitreal anti-VEGF therapy (ranibizumab), but responses to treatment show large variability. Genetic factors that influence AMD and that affect the...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:10.1167/iovs.10-6080
更新日期:2011-07-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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doi:10.1167/iovs.14-15968
更新日期:2014-12-11 00:00:00
abstract:Purpose:To accelerate the development of new therapies, an inherited retinal degeneration model in a nonhuman primate would be useful to confirm the efficacy in preclinical studies. In this study, we describe the discovery of retinitis pigmentosa in a cynomolgus monkey (Macaca fascicularis) pedigree. Methods:First, sc...
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更新日期:2018-02-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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更新日期:2012-09-14 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2015-09-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,meta分析,评审
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更新日期:2015-08-01 00:00:00
abstract:Purpose:Rapid identification of pathogens causing endophthalmitis may improve treatment outcomes through early administration of species-specific medication. The current study reports a new molecular application of peptide nucleic acid-fluorescence in situ hybridization (PNA-FISH) with Staphylococcus-specific molecular...
journal_title:Investigative ophthalmology & visual science
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更新日期:2017-08-01 00:00:00
abstract:PURPOSE:To report the impact of intravitreous bevacizumab therapy on contrast sensitivity in patients with neovascular age-related macular degeneration (nAMD). METHODS:This was a prospective, multicenter, double-masked, randomized, controlled trial of 131 patients with nAMD. The patients with nAMD had received intravi...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2011-05-11 00:00:00
abstract:PURPOSE:This study was designed to investigate the suppressive effects of antithrombin (AT)III on inflammatory reactions during endotoxin-induced uveitis (EIU) in rats by studying leukocyte-endothelium interactions. METHODS:EIU was induced in Lewis rats by footpad injection of lipopolysaccharide (LPS). ATIII was admin...
journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
doi:
更新日期:2001-06-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2019-03-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2006-08-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
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更新日期:2018-04-01 00:00:00
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journal_title:Investigative ophthalmology & visual science
pub_type: 杂志文章
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更新日期:2014-04-24 00:00:00