Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice
Abstract
The rd7 mouse is a model for hereditary retinal degeneration characterized clinically by retinal spotting throughout the fundus and late onset retinal degeneration, and histologically by retinal dysplasia manifesting as folds and whorls in the photoreceptor layer. This study demonstrates that the rd7 phenotype results from a splicing error created by a genomic deletion of an intron and part of an exon. Hematoxylin/eosin staining of rd7 tissue shows that the whorls in the outer nuclear layer of the retina do not appear during embryonic development but manifest by postnatal day 12.5 (P12.5). Furthermore, in situ hybridization data indicates that the Nr2e3 message is first present at barely discernable levels at embryonic day 18.5, becomes abundant by P2.5, and reaches maximal adult levels by P10.5. Results from these experiments indicate that Nr2e3 message is expressed prior to the development of S-cones. This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal. Immunohistochemical staining of cone cells demonstrates that rd7 retinas have an increased number of cone cells compared to wild-type retinas. Thus, Nr2e3 may function by regulating genes involved in cone cell proliferation, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions.
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Nr2e3rd7 mice have additional retinal vascular attenuation and mottled retinal pigmentation at 16 months of age.
“There is additional retinal vascular attenuation and mottled retinal pigmentation at 16 months of age”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Haider et al., 2001
Nr2e3 is part of the cellular and nuclear receptor family for steroid hormones and is involved in cone cell proliferation, maintenance of photoreceptor topography and intercellular interactions, and expression of rod photoreceptor cell-specific genes.
“Nr2e3 is part of the cellular and nuclear receptor family for steroid hormones and is involved in cone cell proliferation, maintenance of photoreceptor topography and intercellular interactions, and expression of rod photoreceptor cell-specific genes”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Haider et al., 2001
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Nrl is required for rod photoreceptor development
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“found in mice that are nullizygous for NR2E3.(16) Specifically, the NRL nullizygous mice have a complete loss of rod function and super-normal s-cone function,(31) and mice lacking the retina-specific exon of THRB1 have an excess of scones.”
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Mo, A., Luo, C., Davis, F. P., Mukamel, E. A., Henry, G. L., Nery, J. R., Urich, M. A., Picard, S., Lister, R., Eddy, S. R., et al. (2016) · eLife · doi:10.7554/elife.11613 · Cited by 158 · see citing works
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“We then compared Crxp-Nrl/WT and Crxp-Nr2e3/WT gene profiles to Nrl−/− (cone-only) and rd7 (1.5–2 fold more S-cones) profiles.”
BackgroundMethodInfluentialDevelopment of the retina and optic pathway
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“If either is absent or defective, rods do not develop appropriately and there is an increase in S cones.(13,15,16) In the Nrl / mouse, no Nr2e3 transcript was detected in postnatal day 10 retina, suggesting that Nrl modulates Nr2e3 expression.”
BackgroundResultInfluentialPATHOGNOMONIC (DIAGNOSTIC) ERGs A Review and Update
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“The retinal degeneration 7 (rd7, Nr2e3rd7/rd7) mutant mouse which lacks NR2E3, has been shown to have an increase in blue opsin expression without a concomitant increase in green opsin or significant reduction in rhodopsin expression (Hawes et al., 1999; Akhmedov et al., 2000; Haider et al., 2001).”
BackgroundMethodThyroid Hormone Controls Cone Opsin Expression in the Retina of Adult Rodents
Glaschke, A., Weiland, J., Turco, D. D., Steiner, M., Peichl, L., & Glösmann, M. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.6181-10.2011 · Cited by 92 · see citing works
“Mutations in either gene cause “enhanced S-cone syndrome,” characterized by a loss of rods and an excess of S-opsin-expressing cones (Haider et al., 2001, 2006; Mears et al., 2001; Yoshida et al., 2004), because precursors that are committed to become rods convert to cones.”
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A moving wave patterns the cone photoreceptor mosaic array in the zebrafish retina
Raymond, P. A., & Barthel, L. K. (2004) · The International Journal of Developmental Biology · doi:10.1387/ijdb.041873pr · Cited by 87 · see citing works
The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation
Haider, N. B., DeMarco, P. J., Nystuen, A., Huang, X., Smith, R. S., McCall, M. A., Naggert, J. Κ., & Nishina, P. M. (2006) · Visual Neuroscience · doi:10.1017/s095252380623027x · Cited by 86 · see citing works
“These current observations are consistent with our previous results of Nr2e3 localization using in situ hybridization ~Haider et al., 2001!.”
BackgroundMethodResultInfluentialWang, M.-S., Zhang, R.-W., Su, L.-Y., Li, Y., Peng, M.-S., Liu, H.-Q., Zeng, L., Irwin, D. M., Du, J.-L., Yao, Y.-G., et al. (2016) · Cell Research · doi:10.1038/cr.2016.44 · Cited by 85 · see citing works
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Naturally occurring animal models with outer retina phenotypes
Baehr, W., & Frederick, J. M. (2009) · Vision Research · doi:10.1016/j.visres.2009.04.008 · Cited by 79 · see citing works
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“Mice lacking Nr2e3 (Nr2e3, rd7) have supernumerary blue cone cells and slow, progressive loss of rods and cones [22–23].”
BackgroundMouse models of ocular diseases
Chang, B., Hawes, N. L., Hurd, R. E., Wang, J., Howell, D., Davisson, M. T., Roderick, T. H., Nusinowitz, S., & Heckenlively, J. R. (2005) · Visual Neuroscience · doi:10.1017/s0952523805225075 · Cited by 75 · see citing works
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“Tail DNA was prepared using standard methods and was PCR amplified with sense primer 50-GTAGCCTCTCCTGCTCT GGCAG-30 and antisense primer 50-CAGGTTGGAAAACA CAGGCAAG-30 (6) under the following conditions: 948C, 3 min followed by 35 cycles of 948C, 30 s; 608C, 30 s; and 728C 30 s, followed by a final extension of 728C for…”
BackgroundMethodResultMutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
Escher, P., Gouras, P., Roduit, R., Tiab, L., Bolay, S., Delarive, T., Chen, S., Tsai, C., Hayashi, M., Zernant, J., et al. (2008) · Human Mutation · doi:10.1002/humu.20858 · Cited by 72 · see citing works
“This abnormal number of cones leads to laminar disorganization and fragmentation of the retina [Akhmedov et al., 2000; Haider et al., 2001, 2006].”
Axon Regrowth during Development and Regeneration Following Injury Share Molecular Mechanisms
Yaniv, S. P., Issman-Zecharya, N., Oren‐Suissa, M., Podbilewicz, B., & Schuldiner, O. (2012) · Current Biology · doi:10.1016/j.cub.2012.07.044 · Cited by 71 · see citing works
Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene
Wang, N., Fine, H. F., Chang, S., Chou, C. L., Cella, W., Tosi, J., Lin, C.-S., Nagasaki, T., & Tsang, S. H. (2009) · British Journal of Ophthalmology · doi:10.1136/bjo.2008.153577 · Cited by 69 · see citing works
“Subretinal white dots[10] and abnormal lamination of the ONL[10,11] have been described in Nr2e3rd7 mutant mice.”
BackgroundRetinoic Acid Regulates the Expression of Photoreceptor Transcription Factor NRL
Khanna, H., Akimoto, M., Siffroi‐Fernandez, S., Friedman, J. S., Hicks, D., & Swaroop, A. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605500200 · Cited by 69 · see citing works
Li, S., Datta, S., Brabbit, E., Love, Z., Woytowicz, V., Flattery, K., Capri, J., Yao, K., Wu, S., Imboden, M., et al. (2021) · Gene Therapy · doi:10.1038/s41434-020-0134-z · Cited by 68 · see citing works
Self-citationde Carvalho, E. R., Robson, A. G., Arno, G., Boon, C. J. F., Webster, A. R., & Michaelides, M. (2020) · Ophthalmology Retina · doi:10.1016/j.oret.2020.07.008 · Cited by 64 · see citing works
Omori, Y., Katoh, K., Sato, S., Muranishi, Y., Chaya, T., Onishi, A., Minami, T., Fujikado, T., & Furukawa, T. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019685 · Cited by 64 · see citing works
“Lack of either Nrl or Nr2e3 causes photoreceptor subtype conversion from rod photoreceptor to S-cone photoreceptors [12,14].”
BackgroundAnimal modelling for inherited central vision loss
Kostic, C., & Arsenijévic, Y. (2015) · The Journal of Pathology · doi:10.1002/path.4641 · Cited by 64 · see citing works
“In the retina of rd7 mice, hybrid photoreceptors called ‘cods’, displaying many characteristics of S-cones, are present but no enhanced S-cone system is detected by electroretinogram (ERG) recordings [55–59].”
BackgroundYanagi, Y., Takezawa, S., & Kato, S. (2002) · PubMed · Cited by 62 · see citing works
Nystuen, A., Schwendinger, J., Sachs, A., Yang, A. W., & Haider, N. (2006) · Neurogenetics · doi:10.1007/s10048-006-0068-7 · Cited by 60 · see citing works
“Immunohistochemistry was performed as before [31] using an antibody specific to VAMP1 (Abcam).”
MethodEzra, D. G. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.062406 · Cited by 60 · see citing works
Cheng, H., Khan, N. W., Roger, J. E., & Swaroop, A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr334 · Cited by 60 · see citing works
“If that is the case, why are only a limited number of precursors transformed into S-cones, and not all those fated to be rods? It has been suggested that additional S-cones originate from abnormal cone proliferation due to the de-suppression of functional NR2E3 in cone precursors (49,50).”
Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases
Maria, A. A., Moreno-Ramos, O. A., & Haider, N. B. (2015) · Journal of Experimental Neuroscience · doi:10.4137/jen.s25480 · Cited by 60 · see citing works
Defects in the Outer Limiting Membrane Are Associated with Rosette Development in the Nrl−/− Retina
Stuck, M. W., Conley, S. M., & Naash, M. I. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032484 · Cited by 57 · see citing works
“Rosettes are reported in the naturally occurring Nr2e3 mutant mouse model (rd7) and were previously thought to be due to over-proliferation of S-cones [35].”
BackgroundLi, T., Lewallen, M. E., Chen, S., Yu, W., Zhang, N., & Xie, T. (2013) · Cell Research · doi:10.1038/cr.2013.48 · Cited by 56 · see citing works
Shu, X., Zeng, Z., Gautier, P. E., Lennon, A., Gakovic, M., Patton, E. E., & Wright, A. F. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp533 · Cited by 53 · see citing works
“Cell death resulting from ZFRPGR2ORF15 knockdown could result from abnormal retinal development, as seen in Nr2e3 (55,57) or Cdkn1b/c mutants (59).”
BackgroundPeng, G.-H., & Chen, S. (2005) · Visual Neuroscience · doi:10.1017/s0952523805225063 · Cited by 52 · see citing works
“~Haider et al., 2000; Milam et al., 2002! and rd7 in mice ~Akhmedov et al., 2000; Haider et al., 2001!, both of which feature an excess of S-cones but loss of rods.”
BackgroundHennig, A. K., Peng, G.-H., & Chen, S. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069721 · Cited by 50 · see citing works
“Abnormal retinal folds are often seen in mouse models where the rods undergo a cell fate switch to cones (Nrl or Nr2e3) [49][54][62], or which compromise the retinal outer limiting membrane (OLM), composed of adherens junctions Figure 5.”
BackgroundGenetics of photoreceptor development and function in zebrafish
Tsujikawa, M., & Malicki, J. J. (2004) · The International Journal of Developmental Biology · doi:10.1387/ijdb.041890mt · Cited by 50 · see citing works
“Murine loss of function mutations in Nrl, and Nr2e3, on the other hand, result in the overproduction of short wavelength cones at the expense of rods (Haider et al., 2001, Mears et al., 2001, Milam et al., 2002).”
BackgroundDual role of Nr2e3 in photoreceptor development and maintenance
Webber, A. L., Hodor, P. G., Thut, C. J., Vogt, T., Zhang, T., Holder, D., & Petrukhin, K. E. (2008) · Experimental Eye Research · doi:10.1016/j.exer.2008.04.006 · Cited by 49 · see citing works
Takezawa, S., Yokoyama, A., Okada, M., Fujiki, R., Iriyama, A., Yanagi, Y., Ito, H., Takada, I., Kishimoto, M., Miyajima, A., et al. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601548 · Cited by 47 · see citing works
“The photoreceptor-specific orphan receptor PNR (NR2E3) is a pivotal regulator in the developing retina, as it determines cone photoreceptor phenotype (Haider et al, 2001; Milam et al, 2002; Yanagi et al, 2002).”
BackgroundRetractedCruz, N. M., Yuan, Y., Leehy, B. D., Baid, R., Kompella, U., DeAngelis, M. M., Escher, P., & Haider, N. B. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087942 · Cited by 47 · see citing works
“Similar to patients with Nr2e3 mutations, rd7 mice exhibit significant increase of S-cones and progressive degeneration of rod and cone photoreceptor cells [38].”
BackgroundTan, M. H. E., Zhou, X. E., Soon, F.-F., Li, X., Li, J., Yong, E., Melcher, K., & Xu, H. E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074359 · Cited by 46 · see citing works
“Apart from ESCS, NR2E3 mutations have also been associated with clumped pigmentary retinal degeneration, recessive and autosomal dominant retinitis pigmentosa, and Goldman-Favre disease [7,19,23-33].”
BackgroundThe Determination of Rod and Cone Photoreceptor Fate
Cepko, C. L. (2015) · Annual Review of Vision Science · doi:10.1146/annurev-vision-090814-121657 · Cited by 46 · see citing works
Macular Function Assessed by Microperimetry in Patients with Enhanced S-Cone Syndrome
Sohn, E. H., Chen, F. K., Rubin, G. S., Moore, A. T., Webster, A. R., & MacLaren, R. E. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2009.10.046 · Cited by 45 · see citing works
Conflict of interest: the authors declare no conflict of interest.
Baygildin, S. S., Мусина, Л. А., & Khismatullina, Z. R. (2021) · Journal Biomed · doi:10.33647/2074-5982-17-1-70-81 · Cited by 44 · see citing works
Have we achieved a unified model of photoreceptor cell fate specification in vertebrates?
Adler, R., & Raymond, P. A. (2007) · Brain Research · doi:10.1016/j.brainres.2007.03.044 · Cited by 42 · see citing works
The Spectrum of Retinal Diseases Caused by NR2E3 Mutations in Israeli and Palestinian Patients
Bandah, D. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2008.615 · Cited by 42 · see citing works
Haider, N. B., Zhang, W., Hurd, R., Ikeda, A., Nystuen, A. M., Naggert, J. K., & Nishina, P. M. (2008) · Mammalian Genome · doi:10.1007/s00335-008-9092-2 · Cited by 41 · see citing works
“F1 offspring from each of these outcrosses were intercrossed to generate F2 mice, which were genotyped as previously described to identify those mice that were homozygous carriers of the Nr2e3 mutation (Haider et al. 2001).”
MethodKitambi, S. S., & Hauptmann, G. (2006) · Gene Expression Patterns · doi:10.1016/j.modgep.2006.10.006 · Cited by 41 · see citing works
Foxq2 determines blue cone identity in zebrafish
Ogawa, Y., Shiraki, T., Fukada, Y., & Kojima, D. (2021) · Science Advances · doi:10.1126/sciadv.abi9784 · Cited by 41 · see citing works
Lee, J., Myers, C., Williams, N. L., Abdelaziz, M., & Corbo, J. C. (2010) · Gene Therapy · doi:10.1038/gt.2010.77 · Cited by 40 · see citing works
Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9
Bohrer, L. R., Wiley, L. A., Burnight, E. R., Cooke, J. A., Giacalone, J. C., Anfinson, K. R., Andorf, J. L., Mullins, R. F., Stone, E. M., & Tucker, B. A. (2019) · Genes · doi:10.3390/genes10040278 · Cited by 40 · see citing works
Glushakova, L. G., Timmers, A. M., Pang, J., Teusner, J. T., & Hauswirth, W. W. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1670 · Cited by 39 · see citing works
“Suppression of cone fate is achieved through direct or indirect action of the nuclear receptor NR2E3, which is up-regulated by NRL.(28,38) When acting in concert with CRX, NR2E3 also appears to simultaneously promote the rod and repress the cone program during photoreceptor differentiation and maintenance.”
BackgroundAn Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome
Chavala, S. H. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2005.068130 · Cited by 38 · see citing works
Mito-mice: animal models for mitochondrial DNA-based diseases
Nakada, K., Inoue, K., & Hayashi, J.-I. (2001) · Seminars in Cell and Developmental Biology · doi:10.1006/scdb.2001.0283 · Cited by 37 · see citing works
Moreno-Ramos, O. A., Olivares, A. M., Haider, N. B., de Autismo, L. C., & Lattig, M. C. (2015) · PLoS ONE · doi:10.1371/journal.pone.0135927 · Cited by 37 · see citing works
“, 2001 where an annealing temperature of 58°C and 35 cycles were applied, and a dilution of 1:10 for the Input sample was used [58].”
Developmental defects in Rb-deficient retinae
Donovan, S. L., & Dyer, M. A. (2004) · Vision Research · doi:10.1016/j.visres.2004.08.007 · Cited by 36 · see citing works
“The other rod development mutants (Nrl / and Nr2e3 / ) gain cones at the expense of rods (Haider et al., 2000; Haider et al., 2001; Mears et al., 2001).”
Wang, N., Lai, C., Liu, C., Yeh, L., Chou, C. L., Kong, J., Nagasaki, T., Tsang, S. H., & Chien, C. L. (2013) · Disease Models & Mechanisms · doi:10.1242/dmm.012112 · Cited by 35 · see citing works
“The twogeneration outcross-intercross series was used to generate rd7/rd7;Tg/Tg double homozygotes for the Nr2e3rd7/rd7 mutation and Tg/Tg, as described previously (Haider et al., 2001).”
MethodGraham, D. R., Overbeek, P. A., & Ash, J. D. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0129 · Cited by 35 · see citing works
Shu, X., Zeng, Z., Gautier, P. E., Lennon, A., Gakovic, M., Cheetham, M. E., Patton, E. E., & Wright, A. F. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6800 · Cited by 34 · see citing works
Chen, J., & Nathans, J. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0922 · Cited by 34 · see citing works
Genetic Animal Models for Retinal Degeneration
Fauser, S., Luberichs, J., & Schüttauf, F. (2002) · Survey of Ophthalmology · doi:10.1016/s0039-6257(02)00314-4 · Cited by 34 · see citing works
Nakamura, P. A., Shimchuk, A. A., Tang, S., Wang, Z., DeGolier, K., Ding, S., & Reh, T. A. (2017) · eLife · doi:10.7554/elife.30577 · Cited by 33 · see citing works
“To further evaluate whether PR3 has other targets in the retina, we tested PR3 in Rd7 retinas, which harbor a spontaneous mutation in Nr2e3 (Akhmedov et al., 2000; Haider et al., 2001; Chen et al., 2006).”
Targeting of the NRL Pathway as a Therapeutic Strategy to Treat Retinitis Pigmentosa
Moore, S. M., Skowronska‐Krawczyk, D., & Chao, D. L. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9072224 · Cited by 31 · see citing works
“NR2E3 expression was localized to the outer nuclear (photoreceptor cell body) layer (ONL) of the retina and most abundantly following rod development, suggesting it functions to suppress cone gene expression [72].”
BackgroundWolkenberg, S. E., Zhao, Z., Kapitskaya, M. Z., Webber, A. L., Petrukhin, K. E., Tang, Y. S., Dean, D. C., Hartman, G. D., & Lindsley, C. W. (2006) · Bioorganic & Medicinal Chemistry Letters · doi:10.1016/j.bmcl.2006.07.056 · Cited by 32 · see citing works
Xie, S., Han, S., Qu, Z., Liu, F., Li, J., Yu, S., Reilly, J., Tu, J., Liu, X., Lu, Z., et al. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2019.01.022 · Cited by 32 · see citing works
“Rods account for 97% of the number of photoreceptors in the mouse retina, while the S-cones increased only 2-fold in the rd7 retina [34].”
BackgroundKanda, A., & Swaroop, A. (2009) · PubMed Central · Cited by 31 · see citing works
Genetic Variations Strongly Influence Phenotypic Outcome in the Mouse Retina
Jelcick, A. S., Yuan, Y., Leehy, B. D., Cox, L. C., Silveira, A. C., Qiu, F., Schenk, S., Sachs, A. J., Morrison, M. A., Nystuen, A., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021858 · Cited by 31 · see citing works
“Immunohistochemistry was performed as previously described [73].”
Retinal Organoid Technology: Where Are We Now?
Zhang, Z., Xu, Z., Yuan, F., Jin, K., & Xiang, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221910244 · Cited by 30 · see citing works
“One of the common causative mutation genes is transcription factor NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3) that controls the terminal differentiation and maturation of rod cells [54,55].”
BackgroundPark, S. P., Hong, I. H., Tsang, S. H., Lee, W., Horowitz, J., Yzer, S., Allikmets, R. L., & Chang, S. (2013) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-013-2296-5 · Cited by 29 · see citing works
“model (NR2E3), which harbors a deletion in NR2E3 [9, 29].”
BackgroundLight, lipids and photoreceptor survival: live or let die?
German, O. L., Agnolazza, D. L., Politi, L. E., & Rotstein, N. P. (2015) · Photochemical & Photobiological Sciences · doi:10.1039/c5pp00194c · Cited by 29 · see citing works
- Authors
- Haider, N. B.
- Affiliations
- Jackson Laboratory (US)
- Corresponding author
- Haider, N. B.
- ORCID
- Haider, N. B.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-08-01
- Volume
- 10
- Issue
- 16
- Pages
- 1619-1626
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2157773282
- Cited by
- 202
- References
- 29
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 4 · 2023: 4 · 2022: 3 · 2021: 6 · 2020: 7 · 2019: 5 · 2018: 3 · 2017: 9 · 2016: 6 · 2015: 8 · 2014: 5 · 2013: 8 · 2012: 11
- FWCI
- 3.15
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- National Institutes of Health (NRSA T32)
- National Eye Institute (EY 11996, R01EY011996)
- National Cancer Institute (#CA34196, P30CA034196)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (T32 HD07065-21, T32HD007065)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Keywords
- NR2E3, retinal degeneration, retinal dysplasia, S-cone photoreceptors, intron deletion, splicing errors, enhanced S-cone syndrome
- MeSH terms
- Animals, Cell Count, Cell Differentiation, Cell Division, Female, Fundus Oculi, Genotype, Humans, Immunohistochemistry, Male, Mice, Inbred C57BL, Mutation, Phenotype, Retina, Retinal Degeneration, Transcription Factors, Retinal Dysplasia, Retinal Cone Photoreceptor Cells, Receptors, Cytoplasmic and Nuclear, Gene Expression Profiling, Mice, Orphan Nuclear Receptors
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