{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,9]],"date-time":"2026-08-09T10:56:08Z","timestamp":1786272968615,"version":"build-2736575974"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"21","license":[{"start":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:00:00Z","timestamp":1725494400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY025291"],"award-info":[{"award-number":["EY025291"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY033808"],"award-info":[{"award-number":["EY033808"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY029817"],"award-info":[{"award-number":["EY029817"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Oakland University Center for Biomedical Research Excellence Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in PRPH2 are a relatively common cause of sight-robbing inherited retinal degenerations (IRDs). Peripherin-2 (PRPH2) is a photoreceptor-specific tetraspanin protein that structures the disk rim membranes of rod and cone outer segment (OS) organelles, and is required for OS morphogenesis. PRPH2 is noteworthy for its broad spectrum of disease phenotypes; both inter- and intra-familial heterogeneity have been widely observed and this variability in disease expression and penetrance confounds efforts to understand genotype\u2013phenotype correlations and pathophysiology. Here we report the generation and initial characterization of a gene-edited animal model for PRPH2 disease associated with a nonsense mutation (c.1095:C&amp;gt;A, p.Y285X), which is predicted to truncate the peripherin-2 C-terminal domain. Young (P21) Prph2Y285X\/WT mice developed near-normal photoreceptor numbers; however, OS membrane architecture was disrupted, OS protein levels were reduced, and in vivo and ex vivo electroretinography (ERG) analyses found that rod and cone photoreceptor function were each severely reduced. Interestingly, ERG studies also revealed that rod-mediated downstream signaling (b-waves) were functionally compensated in the young animals. This resiliency in retinal function was retained at P90, by which time substantial IRD-related photoreceptor loss had occurred. Altogether, the current studies validate a new mouse model for investigating PRPH2 disease pathophysiology, and demonstrate that rod and cone photoreceptor function and structure are each directly and substantially impaired by the Y285X mutation. They also reveal that Prph2 mutations can induce a functional compensation that resembles homeostatic plasticity, which can stabilize rod-derived signaling, and potentially dampen retinal dysfunction during some PRPH2-associated IRDs.<\/jats:p>","DOI":"10.1093\/hmg\/ddae128","type":"journal-article","created":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T19:04:30Z","timestamp":1725563070000},"page":"1916-1928","source":"Crossref","is-referenced-by-count":5,"title":["A new mouse model for <i>PRPH2<\/i> pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration"],"prefix":"10.1093","volume":"33","author":[{"given":"Breyanna L","family":"Cavanaugh","sequence":"first","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle L","family":"Milstein","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Casey","family":"Boucher","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon X","family":"Tan","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario W","family":"Hanna","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Seidel","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rikard","family":"Frederiksen","sequence":"additional","affiliation":[{"name":"Stein Eye Institute , David Geffen School of Medicine, , Los Angeles, CA 90095-7000,","place":["United States"]},{"name":"University of California Los Angeles , David Geffen School of Medicine, , Los Angeles, CA 90095-7000,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L","family":"Saunders","sequence":"additional","affiliation":[{"name":"Trangsgenic Animal Model Core , Biomedical Research Core Facilities, Division of Genetic Medicine, , Ann Arbor, MI 41809,","place":["United States"]},{"name":"University of Michigan , Biomedical Research Core Facilities, Division of Genetic Medicine, , Ann Arbor, MI 41809,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alapakkam P","family":"Sampath","sequence":"additional","affiliation":[{"name":"Stein Eye Institute , David Geffen School of Medicine, , Los Angeles, CA 90095-7000,","place":["United States"]},{"name":"University of California Los Angeles , David Geffen School of Medicine, , Los Angeles, CA 90095-7000,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth P","family":"Mitton","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]},{"name":"Department of Foundational Medical Studies, Oakland University William Beaumont School of Medicine , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dao-Qi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]},{"name":"Department of Foundational Medical Studies, Oakland University William Beaumont School of Medicine , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3964-5987","authenticated-orcid":false,"given":"Andrew F X","family":"Goldberg","sequence":"additional","affiliation":[{"name":"Eye Research Institute, Oakland University , Rochester, MI 48309,","place":["United States"]},{"name":"Department of Foundational Medical Studies, Oakland University William Beaumont School of Medicine , Rochester, MI 48309,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,9,5]]},"reference":[{"key":"2024110707414715100_ref1","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1002\/ajmg.c.31843","article-title":"Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network","volume":"184","author":"Goetz","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2024110707414715100_ref2","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1016\/j.ophtha.2020.04.008","article-title":"Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom","volume":"127","author":"Pontikos","year":"2020","journal-title":"Ophthalmology"},{"key":"2024110707414715100_ref3","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1002\/humu.24065","article-title":"Genotype-phenotype associations in a large PRPH2-related retinopathy cohort","volume":"41","author":"Reeves","year":"2020","journal-title":"Hum Mutat"},{"key":"2024110707414715100_ref4","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.preteyeres.2008.01.002","article-title":"The spectrum of retinal dystrophies caused by mutations in the peripherin\/RDS gene","volume":"27","author":"Boon","year":"2008","journal-title":"Prog Retin Eye Res"},{"key":"2024110707414715100_ref5","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1002\/humu.24275","article-title":"PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease","volume":"42","author":"Peeters","year":"2021","journal-title":"Hum Mutat"},{"key":"2024110707414715100_ref6","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1073\/pnas.88.3.723","article-title":"Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse","volume":"88","author":"Connell","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024110707414715100_ref7","doi-asserted-by":"crossref","first-page":"4400","DOI":"10.1073\/pnas.1912513117","article-title":"Multistep peripherin-2\/rds self-assembly drives membrane curvature for outer segment disk architecture and photoreceptor viability","volume":"117","author":"Milstein","year":"2020","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024110707414715100_ref8","doi-asserted-by":"crossref","first-page":"e72817","DOI":"10.7554\/eLife.72817","article-title":"Determinants shaping the nanoscale architecture of the mouse rod outer segment","volume":"10","author":"Poge","year":"2021","journal-title":"elife"},{"key":"2024110707414715100_ref9","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/75621","article-title":"Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis","volume":"25","author":"Clarke","year":"2000","journal-title":"Nat Genet"},{"key":"2024110707414715100_ref10","doi-asserted-by":"crossref","first-page":"eadd3677","DOI":"10.1126\/sciadv.add3677","article-title":"Cryo-EM structures of peripherin-2 and ROM1 suggest multiple roles in photoreceptor membrane morphogenesis","volume":"8","author":"El Mazouni","year":"2022","journal-title":"Sci Adv"},{"key":"2024110707414715100_ref11","doi-asserted-by":"crossref","first-page":"42700","DOI":"10.1074\/jbc.M107511200","article-title":"Folding and subunit assembly of photoreceptor peripherin\/rds is mediated by determinants within the extracellular\/intradiskal EC2 domain: implications for heterogeneous molecular pathologies","volume":"276","author":"Goldberg","year":"2001","journal-title":"J Biol Chem"},{"key":"2024110707414715100_ref12","doi-asserted-by":"crossref","first-page":"13726","DOI":"10.1073\/pnas.93.24.13726","article-title":"Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin\/rds and rom-1","volume":"93","author":"Goldberg","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024110707414715100_ref13","doi-asserted-by":"crossref","first-page":"784","DOI":"10.3390\/cells9030784","article-title":"The interplay between Peripherin 2 complex formation and degenerative retinal diseases","volume":"9","author":"Tebbe","year":"2020","journal-title":"Cells"},{"key":"2024110707414715100_ref14","doi-asserted-by":"crossref","first-page":"931","DOI":"10.3390\/cells9040931","article-title":"Mouse models of inherited retinal degeneration with photoreceptor cell loss","volume":"9","author":"Collin","year":"2020","journal-title":"Cells"},{"key":"2024110707414715100_ref15","doi-asserted-by":"crossref","first-page":"677","DOI":"10.2174\/0929866054696217","article-title":"Predicted and measured disorder in peripherin\/rds, a retinal tetraspanin","volume":"12","author":"Ritter","year":"2005","journal-title":"Protein Pept Lett"},{"key":"2024110707414715100_ref16","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S0005-2736(99)00226-6","article-title":"A peptide analogue to a fusion domain within photoreceptor peripherin\/rds promotes membrane adhesion and depolarization","volume":"1463","author":"Boesze-Battaglia","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"2024110707414715100_ref17","doi-asserted-by":"crossref","first-page":"7850","DOI":"10.1074\/jbc.M116.768143","article-title":"An inducible amphipathic helix within the intrinsically disordered C terminus can participate in membrane curvature generation by peripherin-2\/rds","volume":"292","author":"Milstein","year":"2017","journal-title":"J Biol Chem"},{"key":"2024110707414715100_ref18","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1091\/mbc.e03-09-0650","article-title":"The C terminus of peripherin\/rds participates in rod outer segment targeting and alignment of disk incisures","volume":"15","author":"Tam","year":"2004","journal-title":"Mol Biol Cell"},{"key":"2024110707414715100_ref19","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1523\/JNEUROSCI.3437-13.2014","article-title":"An unconventional secretory pathway mediates the cilia targeting of peripherin\/rds","volume":"34","author":"Tian","year":"2014","journal-title":"J Neurosci"},{"key":"2024110707414715100_ref20","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1136\/jmg.34.8.620","article-title":"RDS\/peripherin gene mutations are frequent causes of central retinal dystrophies","volume":"34","author":"Kohl","year":"1997","journal-title":"J Med Genet"},{"key":"2024110707414715100_ref21","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/0304-3940(81)90051-3","article-title":"Absence of receptor outer segments in the retina of rds mutant mice","volume":"21","author":"Sanyal","year":"1981","journal-title":"Neurosci Lett"},{"key":"2024110707414715100_ref22","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/338070a0","article-title":"Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)","volume":"338","author":"Travis","year":"1989","journal-title":"Nature"},{"key":"2024110707414715100_ref23","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1006\/geno.1995.1133","article-title":"Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II","volume":"28","author":"Ma","year":"1995","journal-title":"Genomics"},{"key":"2024110707414715100_ref24","doi-asserted-by":"crossref","first-page":"8118","DOI":"10.1523\/JNEUROSCI.17-21-08118.1997","article-title":"The effect of peripherin\/rds haploinsufficiency on rod and cone photoreceptors","volume":"17","author":"Cheng","year":"1997","journal-title":"J Neurosci"},{"key":"2024110707414715100_ref25","doi-asserted-by":"crossref","first-page":"48009","DOI":"10.1074\/jbc.M108941200","article-title":"The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes","volume":"276","author":"Poetsch","year":"2001","journal-title":"J Biol Chem"},{"key":"2024110707414715100_ref26","doi-asserted-by":"crossref","first-page":"e0125631","DOI":"10.1371\/journal.pone.0125631","article-title":"A comparison of some organizational characteristics of the mouse central retina and the human macula","volume":"10","author":"Volland","year":"2015","journal-title":"PLoS One"},{"key":"2024110707414715100_ref27","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1167\/iovs.07-0049","article-title":"An intramembrane glutamic acid governs peripherin\/rds function for photoreceptor disk morphogenesis","volume":"48","author":"Goldberg","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref68","doi-asserted-by":"crossref","first-page":"e31371","DOI":"10.1371\/journal.pone.0031371","article-title":"Protective gene expression changes elicited by an inherited defect in photoreceptor structure","volume":"7","author":"Sharma","year":"2012","journal-title":"PLoS One"},{"key":"2024110707414715100_ref28","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/cne.903160110","article-title":"Synaptic plasticity in the rod terminals after partial photoreceptor cell loss in the heterozygous rds mutant mouse","volume":"316","author":"Jansen","year":"1992","journal-title":"J Comp Neurol"},{"key":"2024110707414715100_ref29","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1083\/jcb.116.3.659","article-title":"Localization of peripherin\/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration","volume":"116","author":"Arikawa","year":"1992","journal-title":"J Cell Biol"},{"key":"2024110707414715100_ref30","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/0896-6273(92)90226-4","article-title":"Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice","volume":"9","author":"Travis","year":"1992","journal-title":"Neuron"},{"key":"2024110707414715100_ref31","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/s41419-023-06243-8","article-title":"Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation","volume":"14","author":"Ruiz-Pastor","year":"2023","journal-title":"Cell Death Dis"},{"key":"2024110707414715100_ref32","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1042\/BJ20041960","article-title":"The Cys214\u2192Ser mutation in peripherin\/rds causes a loss-of-function phenotype in transgenic mice","volume":"388","author":"Stricker","year":"2005","journal-title":"Biochem J"},{"key":"2024110707414715100_ref33","doi-asserted-by":"crossref","first-page":"2514","DOI":"10.1167\/iovs.04-0065","article-title":"Modulating expression of peripherin\/rds in transgenic mice: critical levels and the effect of overexpression","volume":"45","author":"Nour","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref34","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/0014-4835(85)90179-4","article-title":"Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes","volume":"41","author":"Hawkins","year":"1985","journal-title":"Exp Eye Res"},{"key":"2024110707414715100_ref35","doi-asserted-by":"crossref","first-page":"3588","DOI":"10.1523\/JNEUROSCI.0041-21.2021","article-title":"Photoreceptor disc enclosure is tightly controlled by Peripherin-2 Oligomerization","volume":"41","author":"Lewis","year":"2021","journal-title":"J Neurosci"},{"key":"2024110707414715100_ref36","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1002\/cne.901900307","article-title":"Disc morphogenesis in vertebrate photoreceptors","volume":"190","author":"Steinberg","year":"1980","journal-title":"J Comp Neurol"},{"key":"2024110707414715100_ref37","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1007\/978-3-031-27681-1_74","article-title":"A ciliary branched actin network drives photoreceptor disc morphogenesis","volume":"1415","author":"Spencer","year":"2023","journal-title":"Adv Exp Med Biol"},{"key":"2024110707414715100_ref38","doi-asserted-by":"crossref","first-page":"14870","DOI":"10.1073\/pnas.1516309112","article-title":"Three-dimensional organization of nascent rod outer segment disk membranes","volume":"112","author":"Volland","year":"2015","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024110707414715100_ref39","doi-asserted-by":"crossref","first-page":"15922","DOI":"10.1073\/pnas.1509285113","article-title":"Rod disc renewal occurs by evagination of the ciliary plasma membrane that makes cadherin-based contacts with the inner segment","volume":"112","author":"Burgoyne","year":"2015","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024110707414715100_ref40","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1083\/jcb.201508093","article-title":"Discs of mammalian rod photoreceptors form through the membrane evagination mechanism","volume":"211","author":"Ding","year":"2015","journal-title":"J Cell Biol"},{"key":"2024110707414715100_ref41","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1167\/iovs.11-8635","article-title":"Prominin-1 localizes to the open rims of outer segment lamellae in Xenopus laevis rod and cone photoreceptors","volume":"53","author":"Han","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref42","doi-asserted-by":"crossref","first-page":"2150","DOI":"10.1167\/iovs.05-0919","article-title":"Characterization of peripherin\/rds and rom-1 transport in rod photoreceptors of transgenic and knockout animals","volume":"47","author":"Lee","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref43","doi-asserted-by":"crossref","first-page":"8187","DOI":"10.1167\/iovs.15-17785","article-title":"Varying the GARP2-to-RDS ratio leads to defects in rim formation and rod and cone function","volume":"56","author":"Chakraborty","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref44","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1017\/S0952523899164125","article-title":"A dissection of the electroretinogram from the isolated rat retina with microelectrodes and drugs","volume":"16","author":"Green","year":"1999","journal-title":"Vis Neurosci"},{"key":"2024110707414715100_ref45","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.visres.2007.11.005","article-title":"Mouse cone photoresponses obtained with electroretinogram from the isolated retina","volume":"48","author":"Heikkinen","year":"2008","journal-title":"Vis Res"},{"key":"2024110707414715100_ref46","first-page":"3200","article-title":"P23H rhodopsin transgenic rat: correlation of retinal function with histopathology","volume":"41","author":"Machida","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref47","doi-asserted-by":"crossref","first-page":"2779","DOI":"10.1016\/S0042-6989(01)00157-2","article-title":"Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats","volume":"41","author":"Aleman","year":"2001","journal-title":"Vis Res"},{"key":"2024110707414715100_ref48","doi-asserted-by":"crossref","first-page":"e59422","DOI":"10.7554\/eLife.59422","article-title":"Homeostatic plasticity in the retina is associated with maintenance of night vision during retinal degenerative disease","volume":"9","author":"Leinonen","year":"2020","journal-title":"eLife"},{"key":"2024110707414715100_ref49","doi-asserted-by":"crossref","first-page":"a005736","DOI":"10.1101\/cshperspect.a005736","article-title":"Homeostatic synaptic plasticity: local and global mechanisms for stabilizing neuronal function","volume":"4","author":"Turrigiano","year":"2012","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2024110707414715100_ref50","doi-asserted-by":"crossref","first-page":"107730","DOI":"10.1016\/j.celrep.2020.107730","article-title":"Mature retina compensates functionally for partial loss of rod photoreceptors","volume":"31","author":"Care","year":"2020","journal-title":"Cell Rep"},{"key":"2024110707414715100_ref51","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1016\/j.cub.2020.03.033","article-title":"Homeostatic plasticity shapes the retinal response to photoreceptor degeneration","volume":"30","author":"Shen","year":"2020","journal-title":"Curr Biol"},{"key":"2024110707414715100_ref52","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1083\/jcb.200509036","article-title":"Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors","volume":"173","author":"Farjo","year":"2006","journal-title":"J Cell Biol"},{"key":"2024110707414715100_ref53","doi-asserted-by":"crossref","first-page":"4253","DOI":"10.1167\/iovs.09-4655","article-title":"ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype","volume":"51","author":"Poloschek","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref54","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1167\/iovs.15-16965","article-title":"Autosomal dominant retinal dystrophies caused by a founder splice site mutation, c.828+3A&gt;T, in PRPH2 and protein haplotypes in trans as modifiers","volume":"57","author":"Shankar","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref55","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/nbt.3437","article-title":"Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9","volume":"34","author":"Doench","year":"2016","journal-title":"Nat Biotechnol"},{"key":"2024110707414715100_ref56","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat Protoc"},{"key":"2024110707414715100_ref57","doi-asserted-by":"crossref","first-page":"4111","DOI":"10.1007\/s00429-017-1456-5","article-title":"Sexually dimorphic distribution of Prokr2 neurons revealed by the Prokr2-Cre mouse model","volume":"222","author":"Mohsen","year":"2017","journal-title":"Brain Struct Funct"},{"key":"2024110707414715100_ref58","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1080\/01926230290105721","article-title":"Fixation of testes and eyes using a modified Davidson's fluid: comparison with Bouin's fluid and conventional Davidson's fluid","volume":"30","author":"Latendresse","year":"2002","journal-title":"Toxicol Pathol"},{"key":"2024110707414715100_ref59","first-page":"280","article-title":"A comparative study of methods of photoreceptor morphometry","volume":"32","author":"Michon","year":"1991","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2024110707414715100_ref60","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat Methods"},{"key":"2024110707414715100_ref61","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1017\/S0952523803202108","article-title":"Structure-function analysis of rods and cones in juvenile, adult, and aged C57bl\/6 and Balb\/c mice","volume":"20","author":"Gresh","year":"2003","journal-title":"Vis Neurosci"},{"key":"2024110707414715100_ref62","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/j.1365-2818.2006.01706.x","article-title":"A guided tour into subcellular colocalization analysis in light microscopy","volume":"224","author":"Bolte","year":"2006","journal-title":"J Microsc"},{"key":"2024110707414715100_ref63","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s12035-021-02582-9","article-title":"Differential effects of experimental retinal detachment on S- and M\/L-cones in rats","volume":"59","author":"Chidlow","year":"2022","journal-title":"Mol Neurobiol"},{"key":"2024110707414715100_ref64","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0091-679X(08)61008-0","article-title":"Resolution of subcellular detail in thick tissue sections: immunohistochemical preparation and fluorescence confocal microscopy","volume":"38","author":"Hale","year":"1993","journal-title":"Methods Cell Biol"},{"key":"2024110707414715100_ref65","doi-asserted-by":"crossref","first-page":"4821","DOI":"10.1113\/JP280014","article-title":"Ex vivo electroretinograms made easy: performing ERGs using 3D printed components","volume":"598","author":"Bonezzi","year":"2020","journal-title":"J Physiol"},{"key":"2024110707414715100_ref66","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1126\/science.6255566","article-title":"2-amino-4-phosphonobutyric acid: a new pharmacological tool for retina research","volume":"211","author":"Slaughter","year":"1981","journal-title":"Science"},{"key":"2024110707414715100_ref67","doi-asserted-by":"crossref","first-page":"7920","DOI":"10.1038\/s41598-017-08172-x","article-title":"Mapping physiological inputs from multiple photoreceptor systems to dopaminergic amacrine cells in the mouse retina","volume":"7","author":"Zhao","year":"2017","journal-title":"Sci Rep"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/21\/1916\/60422790\/ddae128.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/21\/1916\/60422790\/ddae128.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T07:43:57Z","timestamp":1730965437000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/33\/21\/1916\/7749491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,5]]},"references-count":68,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2024,9,5]]},"published-print":{"date-parts":[[2024,11,5]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddae128","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,11,1]]},"published":{"date-parts":[[2024,9,5]]}}}