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Volumn 81, Issue 5, 2005, Pages 503-512

Mouse mutants as models for congenital retinal disorders

Author keywords

Animal model; Gene mutation; Mouse; Retina; Retinal degeneration

Indexed keywords

ANIMAL MODEL; CHROMOSOMAL LOCALIZATION; EVALUATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE; INTRON; LEBER CONGENITAL AMAUROSIS; MISSENSE MUTATION; MOUSE; NONHUMAN; OPTIC NERVE ATROPHY; PHOTORECEPTOR CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DISEASE; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; RETINOPATHY; REVIEW;

EID: 27444437192     PISSN: 00144835     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exer.2005.06.004     Document Type: Review
Times cited : (78)

References (81)
  • 10
    • 4344665205 scopus 로고    scopus 로고
    • Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors
    • H. Cheng, H. Khanna, E.C. Oh, D. Hicks, K.P. Mitton, and A. Swaroop Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors Hum. Mol. Genet. 13 2004 1563 1575
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1563-1575
    • Cheng, H.1    Khanna, H.2    Oh, E.C.3    Hicks, D.4    Mitton, K.P.5    Swaroop, A.6
  • 14
    • 0032521179 scopus 로고    scopus 로고
    • A high-resolution genetic map of the nervous locus on mouse chromosome 8
    • P.L. De Jager, D. Harvey, A.D. Polydorides, J. Zuo, and N. Heintz A high-resolution genetic map of the nervous locus on mouse chromosome 8 Genomics 48 1998 346 353
    • (1998) Genomics , vol.48 , pp. 346-353
    • De Jager, P.L.1    Harvey, D.2    Polydorides, A.D.3    Zuo, J.4    Heintz, N.5
  • 17
    • 0032749223 scopus 로고    scopus 로고
    • Retinopathy and attenuated circadian entrainment in Crx-deficient mice
    • T. Furukawa, E.M. Morrow, T. Li, F.C. Davis, and C.L. Cepko Retinopathy and attenuated circadian entrainment in Crx-deficient mice Nat. Genet. 23 1999 466 470
    • (1999) Nat. Genet. , vol.23 , pp. 466-470
    • Furukawa, T.1    Morrow, E.M.2    Li, T.3    Davis, F.C.4    Cepko, C.L.5
  • 19
    • 0035065567 scopus 로고    scopus 로고
    • A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice
    • E. Gimenez, and L. Montoliu A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice Lab. Anim. 35 2001 153 156
    • (2001) Lab. Anim. , vol.35 , pp. 153-156
    • Gimenez, E.1    Montoliu, L.2
  • 20
    • 2942699883 scopus 로고    scopus 로고
    • Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis
    • R. Guarneri, D. Russo, C. Cascio, S. D'Agostino, G. Galizzi, P. Bigini, T. Mennini, and P. Guarneri Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis Brain Res. 1014 2004 209 220
    • (2004) Brain Res. , vol.1014 , pp. 209-220
    • Guarneri, R.1    Russo, D.2    Cascio, C.3    D'Agostino, S.4    Galizzi, G.5    Bigini, P.6    Mennini, T.7    Guarneri, P.8
  • 22
    • 0033879658 scopus 로고    scopus 로고
    • Molecular ophthalmology: An update on animal models for retinal degenerations and dystrophies
    • F. Hafezi, C. Grimm, B.C. Simmen, A. Wenzel, and C.E. Reme Molecular ophthalmology: an update on animal models for retinal degenerations and dystrophies Br. J. Ophthalmol. 84 2000 922 927
    • (2000) Br. J. Ophthalmol. , vol.84 , pp. 922-927
    • Hafezi, F.1    Grimm, C.2    Simmen, B.C.3    Wenzel, A.4    Reme, C.E.5
  • 24
    • 0034724168 scopus 로고    scopus 로고
    • A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
    • D.H. Hong, B.S. Pawlyk, J. Shang, M.A. Sandberg, E.L. Berson, and T. Li A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3) Proc. Natl Acad. Sci. USA 97 2000 3649 3654
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 3649-3654
    • Hong, D.H.1    Pawlyk, B.S.2    Shang, J.3    Sandberg, M.A.4    Berson, E.L.5    Li, T.6
  • 26
    • 13444270824 scopus 로고    scopus 로고
    • Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity
    • D.J. Horsford, M.T. Nguyen, G.C. Sellar, R. Kothary, H. Arnheiter, and R.R. McInnes Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity Development 132 2005 177 187
    • (2005) Development , vol.132 , pp. 177-187
    • Horsford, D.J.1    Nguyen, M.T.2    Sellar, G.C.3    Kothary, R.4    Arnheiter, H.5    McInnes, R.R.6
  • 30
    • 27444437880 scopus 로고    scopus 로고
    • Genetic background effects: Can your mice see?
    • Jax Notes
    • Jax Notes, 2002. Genetic background effects: can your mice see? Jax Notes 485, 2. http://jaxmice.jax.org/library/notes/485.pdf.
    • (2002) Jax Notes , vol.485 , pp. 2
  • 32
    • 0036667987 scopus 로고    scopus 로고
    • Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
    • S. Kameya, N.L. Hawes, B. Chang, J.R. Heckenlively, J.K. Naggert, and P.M. Nishina Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6 Hum. Mol. Genet. 11 2002 1879 1886
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1879-1886
    • Kameya, S.1    Hawes, N.L.2    Chang, B.3    Heckenlively, J.R.4    Naggert, J.K.5    Nishina, P.M.6
  • 34
    • 0000087516 scopus 로고
    • The inheritance of a retinal abnormality in white mice
    • C.E. Keeler The inheritance of a retinal abnormality in white mice Proc. Natl Acad. Sci. USA 10 1924 329 333
    • (1924) Proc. Natl Acad. Sci. USA , vol.10 , pp. 329-333
    • Keeler, C.E.1
  • 37
    • 0032938357 scopus 로고    scopus 로고
    • UV- and midwave-sensitive cone-driven retinal responses of the mouse: A possible phenotype for coexpression of cone photopigments
    • A.L. Lyubarsky, B. Falsini, M.E. Pennesi, P. Valentini, and E.N. Pugh Jr. UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments J. Neurosci. 19 1999 442 455
    • (1999) J. Neurosci. , vol.19 , pp. 442-455
    • Lyubarsky, A.L.1    Falsini, B.2    Pennesi, M.E.3    Valentini, P.4    Pugh Jr., E.N.5
  • 38
    • 0347089037 scopus 로고    scopus 로고
    • Electroporation and RNA interference in the rodent retina in vivo and in vitro
    • T. Matsuda, and C.L. Cepko Electroporation and RNA interference in the rodent retina in vivo and in vitro Proc. Natl Acad. Sci. USA 101 2004 16 22
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 16-22
    • Matsuda, T.1    Cepko, C.L.2
  • 42
    • 26444469568 scopus 로고    scopus 로고
    • Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice
    • E.M. Morrow, T. Furukawa, E. Raviola, and C.L. Cepko Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice BMC Neurosci. 6 2005 5
    • (2005) BMC Neurosci. , vol.6 , pp. 5
    • Morrow, E.M.1    Furukawa, T.2    Raviola, E.3    Cepko, C.L.4
  • 46
    • 3242880192 scopus 로고    scopus 로고
    • Modulating expression of peripherin/rds in transgenic mice: Critical levels and the effect of overexpression
    • M. Nour, X.Q. Ding, H. Stricker, S.J. Fliesler, and M.I. Naash Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression Invest. Ophthalmol. Vis. Sci. 45 2004 2514 2521
    • (2004) Invest. Ophthalmol. Vis. Sci. , vol.45 , pp. 2514-2521
    • Nour, M.1    Ding, X.Q.2    Stricker, H.3    Fliesler, S.J.4    Naash, M.I.5
  • 48
    • 1842535050 scopus 로고    scopus 로고
    • Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1
    • A. Ohtoshi, S.W. Wang, H. Maeda, S.M. Saszik, L.J. Frishman, W.H. Klein, and R.R. Behringer Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1 Curr. Biol. 14 2004 530 536
    • (2004) Curr. Biol. , vol.14 , pp. 530-536
    • Ohtoshi, A.1    Wang, S.W.2    Maeda, H.3    Saszik, S.M.4    Frishman, L.J.5    Klein, W.H.6    Behringer, R.R.7
  • 50
    • 0038336001 scopus 로고    scopus 로고
    • Electrophysiological analysis of visual function in mutant mice
    • N.S. Peachey, and S.L. Ball Electrophysiological analysis of visual function in mutant mice Doc. Ophthalmol. 107 2003 13 36
    • (2003) Doc. Ophthalmol. , vol.107 , pp. 13-36
    • Peachey, N.S.1    Ball, S.L.2
  • 51
    • 0942298092 scopus 로고    scopus 로고
    • Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis
    • V. Pignatelli, C.L. Cepko, and E. Strettoi Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis J. Comp. Neurol. 469 2004 351 359
    • (2004) J. Comp. Neurol. , vol.469 , pp. 351-359
    • Pignatelli, V.1    Cepko, C.L.2    Strettoi, E.3
  • 52
    • 0026072333 scopus 로고
    • Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse
    • S.J. Pittler, and W. Baehr Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse Proc. Natl Acad. Sci. USA 88 1991 8322 8326
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 8322-8326
    • Pittler, S.J.1    Baehr, W.2
  • 53
    • 1942533542 scopus 로고    scopus 로고
    • Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration
    • R.A. Radu, N.L. Mata, A. Bagla, and G.H. Travis Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration Proc. Natl Acad. Sci. USA 101 2004 5928 5933
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 5928-5933
    • Radu, R.A.1    Mata, N.L.2    Bagla, A.3    Travis, G.H.4
  • 54
    • 4644256599 scopus 로고    scopus 로고
    • Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
    • V. Ramamurthy, G.A. Niemi, T.A. Reh, and J.B. Hurley Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase Proc. Natl Acad. Sci. USA 101 2004 13897 13902
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 13897-13902
    • Ramamurthy, V.1    Niemi, G.A.2    Reh, T.A.3    Hurley, J.B.4
  • 57
    • 8444237405 scopus 로고    scopus 로고
    • Transdifferentiation of the retina into pigmented cells in ocular retardation mice defines a new function of the homeodomain gene Chx10
    • S. Rowan, C.M. Chen, T.L. Young, D.E. Fisher, and C.L. Cepko Transdifferentiation of the retina into pigmented cells in ocular retardation mice defines a new function of the homeodomain gene Chx10 Development 131 2004 5139 51352
    • (2004) Development , vol.131 , pp. 5139-51352
    • Rowan, S.1    Chen, C.M.2    Young, T.L.3    Fisher, D.E.4    Cepko, C.L.5
  • 58
    • 0942276413 scopus 로고    scopus 로고
    • Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina
    • A.D. Rutherford, N. Dhomen, H.K. Smith, and J.C. Sowden Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina Invest. Ophthalmol. Vis. Sci. 45 2004 375 384
    • (2004) Invest. Ophthalmol. Vis. Sci. , vol.45 , pp. 375-384
    • Rutherford, A.D.1    Dhomen, N.2    Smith, H.K.3    Sowden, J.C.4
  • 61
    • 0029261532 scopus 로고
    • Evidence of a difference in photoreceptor cell loss in the peripheral versus posterior regions of the vitiligo (C57BL/6J-mi(vit)/mi(vit)) mouse retina
    • S.B. Smith Evidence of a difference in photoreceptor cell loss in the peripheral versus posterior regions of the vitiligo (C57BL/6J-mi(vit)/mi(vit)) mouse retina Exp. Eye Res. 60 1995 333 336
    • (1995) Exp. Eye Res. , vol.60 , pp. 333-336
    • Smith, S.B.1
  • 62
    • 9644303214 scopus 로고    scopus 로고
    • Bone marrow-derived stem cells preserve cone vision in retinitis pigmentosa
    • L.E. Smith Bone marrow-derived stem cells preserve cone vision in retinitis pigmentosa J. Clin. Invest. 114 2004 755 757
    • (2004) J. Clin. Invest. , vol.114 , pp. 755-757
    • Smith, L.E.1
  • 69
    • 0017053413 scopus 로고
    • A new allele of ocular retardation: Early development and morphogenetic cell death
    • K. Theiler, D.S. Varnum, J.H. Nadeau, L.C. Stevens, and B. Cagianut A new allele of ocular retardation: early development and morphogenetic cell death Anat. Embryol. 150 1976 85 97
    • (1976) Anat. Embryol. , vol.150 , pp. 85-97
    • Theiler, K.1    Varnum, D.S.2    Nadeau, J.H.3    Stevens, L.C.4    Cagianut, B.5
  • 70
    • 0024571803 scopus 로고
    • Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
    • G.H. Travis, M.B. Brennan, P.E. Danielson, C.A. Kozak, and J.G. Sutcliffe Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds) Nature 338 1989 70 73
    • (1989) Nature , vol.338 , pp. 70-73
    • Travis, G.H.1    Brennan, M.B.2    Danielson, P.E.3    Kozak, C.A.4    Sutcliffe, J.G.5
  • 71
    • 0000877014 scopus 로고
    • A gene causing ocular retardation in the mouse
    • G.M. Truslove A gene causing ocular retardation in the mouse J. Embryol. Exp. Morphol. 10 1962 652 660
    • (1962) J. Embryol. Exp. Morphol. , vol.10 , pp. 652-660
    • Truslove, G.M.1
  • 72
  • 73
    • 0036183704 scopus 로고    scopus 로고
    • The positive role of the carboxyl terminus of the gamma subunit of retinal cGMP-phosphodiesterase in maintaining phosphodiesterase activity in vivo
    • S.H. Tsang, C.K. Yamashita, W.H. Lee, C.S. Lin, S.P. Goff, P. Gouras, and D.B. Farber The positive role of the carboxyl terminus of the gamma subunit of retinal cGMP-phosphodiesterase in maintaining phosphodiesterase activity in vivo Vision Res. 42 2002 439 445
    • (2002) Vision Res. , vol.42 , pp. 439-445
    • Tsang, S.H.1    Yamashita, C.K.2    Lee, W.H.3    Lin, C.S.4    Goff, S.P.5    Gouras, P.6    Farber, D.B.7
  • 76
    • 27444441633 scopus 로고    scopus 로고
    • Rescue of photoreceptor degeneration in a genetic mouse model for X-linked juvenile retinoschisis
    • 16th GfH meeting, Halle, Germany
    • Weber, B.H., Janssen, A., Schrewe, H., Seeliger, M., Molday, R.S., Min, S.-H., Hauswirth, W.W., 2005. Rescue of photoreceptor degeneration in a genetic mouse model for X-linked juvenile retinoschisis, 16th GfH meeting, Halle, Germany, Medizinische Genetik 1, 39.
    • (2005) Medizinische Genetik , vol.1 , pp. 39
    • Weber, B.H.1    Janssen, A.2    Schrewe, H.3    Seeliger, M.4    Molday, R.S.5    Min, S.-H.6    Hauswirth, W.W.7
  • 77
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • J. Weng, N.L. Mata, S.M. Azarian, R.T. Tzekov, D.G. Birch, and G.H. Travis Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice Cell 98 1999 13 23
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3    Tzekov, R.T.4    Birch, D.G.5    Travis, G.H.6
  • 78
    • 0036155408 scopus 로고    scopus 로고
    • The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
    • R.B. Wheeler, J.D. Sharp, R.A. Schultz, J.M. Joslin, R.E. Williams, and S.E. Mole The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein Am. J. Hum. Genet. 70 2002 537 542
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 537-542
    • Wheeler, R.B.1    Sharp, J.D.2    Schultz, R.A.3    Joslin, J.M.4    Williams, R.E.5    Mole, S.E.6
  • 79
    • 0141707934 scopus 로고    scopus 로고
    • Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis
    • M.L. Woodruff, Z. Wang, H.Y. Chung, T.M. Redmond, G.L. Fain, and J. Lem Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis Nat. Genet. 35 2003 158 164
    • (2003) Nat. Genet. , vol.35 , pp. 158-164
    • Woodruff, M.L.1    Wang, Z.2    Chung, H.Y.3    Redmond, T.M.4    Fain, G.L.5    Lem, J.6
  • 81
    • 0037389431 scopus 로고    scopus 로고
    • The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis
    • Y. Zhao, D.H. Hong, B. Pawlyk, G. Yue, M. Adamian, M. Grynberg, A. Godzik, and T. Li The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis Proc. Natl Acad. Sci. USA 100 2003 3965 3970
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 3965-3970
    • Zhao, Y.1    Hong, D.H.2    Pawlyk, B.3    Yue, G.4    Adamian, M.5    Grynberg, M.6    Godzik, A.7    Li, T.8


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