Mouse mutations as models for studying cataracts

Pathobiology

Volumn 65, Issue 3, 1997, Pages 146-154

  Smith, Richard S ^a   Sundberg, John P ^a   Linder, Carol Cutler ^a  

^a JACKSON LABORATORY   (United States)

Author keywords

Cataract; Development; Embryology; Mouse

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CATARACT; CATARACTOGENESIS; CELL PROLIFERATION; GENE MUTATION; INBRED STRAIN; LENS EPITHELIUM; LENS NUCLEUS; MOLECULAR BIOLOGY; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ANIMALIA;

EID: 0030762388     PISSN: 10152008     EISSN: 14230291     Source Type: Journal    
DOI: 10.1159/000164116     Document Type: Article

References (90)

1. Spencer WH (ed): Ophthalmic Pathology: An Atlas and Textbook. Philadelphia. Saunders. 1985, vol I, pp 151-161, 423-479. vol 3. p 1396.
2. Mouse Genome Database (MGD) Mouse Genome Informatics. Bar Harbor. The Jackson Laboratory. 1997, World Wide Web, URL: http://wwv.informatics.jax.org/.
3. Davisson MT. Lalley PA. Peters J. Doolittle DP. Hillyard AL. Searle AG: Report of the Comparative Subcommittee for Human. Mouse, and Other Rodents (HGMI1). Cyto-gcnct Cell Genet 1991;58:1152-1159.
4. Nadeau JH, Davisson MT, Doolittle DP, Grant P. Hillyard AL, Kosowsky MR. Roderick TH: Comparative map for mice and humans. Mamnt Genome 1992:3:480-536.
5. Hill RE, Favor J. Hogan BLM, Ton CCT. Saunders GF, Hanson J. Prosser J, Jordan T, HastieND. van Heyningcn V: Mouse small eye results from mutations in a paired-like homeo-box-containing gene. Nature 1991:354:522-525.
6. Quiring R. Walldorf U. Kloter U, Gehring WJ: Homology of the eyeless gene of Drosophila to the small eye gene in mice and aniridia in humans. Science 1994;265:765-769.
7. Foster HL, Small JD, Fox JG (eds): The Mouse in Biomedical Research New York, Academic Press, 1982.
8. Smith RS, Linder C. Sundberg JP: Congenital cataracts in inbred mice. Jax Notes Ophthalmol News 1995.
9. Maas R: Keeping an eye on eye development. Nature Genet 1996:12:346-347.
10. Rugh R: The mouse: Its reproduction and development. Minneapolis. Burgess, 1968.
11. Pei YV. Rhodin JAG: The prenatal development of the mouse eye. Anal Rec 1970:168: 105-126.
12. Chase HB, Chase EB: Studies on an anophthal-mic strain of mice. L, Embryology of the eye region. J Morphol 1941:68:279-301.
13. Smith RS, Roderick TH, Sundberg JP: Microphthalmia and associated abnormalities in inbred black mice. Lab Anim Med 1994:44: 551-560.
14. Robinson ML. Holmgren A. Dewey MJ: Genetic control of ocular morphogenesis: Defective lens development associated with ocular abnormalities in C57BI76 mice. Exp Eye Res 1993;56:7-16.
15. Graw J: Genetic aspects of embryonic eye development in vertebrates. Dev Genet 1996; 18: 181-197.
16. Haider G. Callacrts P, Gehring WJ: Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 1995:267: 1788-1792.
17. Kaufman MH, Chang HH. Shaw JP: Craniofacial abnormalities in homozygous small eye (Sey/Sey) embryos. J Anat 1995; 186:607-617.
18. Schedl A. Ross A, Lee M. Engelkamp D, Rash-bass P, vanHcyningen V, Hastic ND: Influence of PAX6 gene dosage on development: Ovcrex-pression causes severe eye abnormalities. Cell 1996;86:71-82.
19. Quinn JC, West JD, Hill RE: Multiple functions for Pax6 in mouse eye and nasal development. Genes Dev 1996;10:435-446.
20. Hodgkinson CA, Moore KJ. Nakayama A. Steingrimmson E, Copeland NG. Jenkins NA, Arnheiter H: Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-hclix-zipper protein. Cell 1993;74:395-404.
21. Tontita K. Ishibashi M, Nakara K. Ang SL. Nakanishi S, Guillemot F, Kageyama R: Mammalian hairy and enhancer of split homolog-1 regulates differentiation of retinal neurons and is essential for eye morphogenesis. Neuron 1996;16:723-734.
22. Franz T. Besecke A: The development of the eye in homozygotes of the mouse mutant extratoes. Anat Embryol 1991:184:355-361.
23. Hui C. Slusarski D, Platt KA, Holmgren R. Joyner RL: Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus. Gli. Gli-2. and Gli-3. in ectoderm- and mesoderm-derived tissues suggests multiple roles during postimplantation development. Dev Biol 1994:162:402-413.
24. Burmeistcr M, Novak J. Liang M, Basu S. Ploder L. Hawes NL. Vidgen D. Hoover F. Goldman D. Kalnins VI. Roderick TH. Taylor BA. Hankin MH. MclnncsRR: Ocular retardation mouse caused by ChxlO homeobox null allele: Impaired retinal progenitor proliferation and bipolar cell differentiation. Nature Genet 1996;12:376-384.
25. Kratochvilova J: Dominant cataract mutations detected in offspring of gamma-radiated male mice. J Hered 1981;72:302-307.
26. Kratochvilova J, Favor J: Phenotypic characterization and genetic analysis of twenty dominant cataract mutants detected in offspring of irradiated male mice. Genet Res 1988:52:125-134.
27. Varnum DS, Stevens LC: Aphakia, a new mutation in the mouse. J Hercd 1968:59:147-150.
28. Webster EH, Zwaan J, Cooper P: Abnormal accumulation of sulphated materials in lens tissue of mice with the aphakia mutation. J Embryol Exp Morphol 1986;92:85-101.
29. Ohotori H. Yoshida T, Inuta T: Small eye and cataracts, a new dominant mutation in the mouse. Exp Anim 1968:17:91-96.
30. Harata M. Shoji R. Semba R: Genetic Background and expressivity of congenital cataract in mice. Jpn J Genet 1978;53:147-152.
31. Paget OE: Cataracta heriditaria subcapsularis: Ein neues, dominantes Allel bci der Hausntaus. Z Indukt Abstammungs Vererbungsl 1953:85: 238-244.
32. Verrtsio AC, Fraser FC: Identity of mutant genes ‘shriveled’ and cataracta congenita subcapsularis in the mouse. Genet Res 1996;8: 377-378.
33. Zwaan J, Williams RM: Cataracts and abnormal proliferation of the lens epithelium in mice carrying the CatFr gene. Exp Eye Res I969;8: 161-167.
34. Sanyal S. Hawkins RK: Dysgenetic lens (dyl). A new gene in the mouse. Invest Ophthalmol VisSci 1979;18:642-645.
35. Sanyal S. van Nie R. de Moes J. Hawkins RK: Map position of dysgenetic lens (dyl) locus on chromosome 4 in the mouse. Genet Res 1986: 48:199-200.
36. Kuck JFR. Kuwabara T. Kuck KD: The embryo mouse cataract: An animal model for human senile cataract. Curr Eye Res 1981:1:643-649.
37. Barron BC, Kuck JFR. Kuck KD: The entory mouse cataract: changes in the beta and gamma crystallins during aging and cataractogcnesis as revealed by isoelectric focusing of the native soluble proteins. Curr Eye Res 1984:3:1365-1372.
38. Aso S. Noda S: Lens aplasia: A new mutation producing lens abnormality in the mouse. Lab AnimSci 1995:45:41-46.
39. West JD. Fisher G: Inherited cataracts in inbred mice. Genet Res 1985:46:45-56.
40. Kurihara T. Kishi M. Saito N, Komoto M, Hidaka T, Kinoshita M: Electrical myotonia and cataract in X-linked muscular dystrophy (tndx) mouse. J Neurol Sci 1990:99:83-92.
41. Brown ER, NakanoT. Vankin GL: Early development of an inherited cataract in mice. Exp Anim 1970; 19:95-99.
42. Piatigorsky J. Fukui HN. Kinoshita JH: Differentia! metabolism and leakage of protein in an inherited cataract and a normal lens cultured with ouabain. Nature 1978.274:558-562.
43. Everett CA, Glenister PH. Taylor DM, Lyon MF. Kratochvilova-Lcster J. Favor J: Mapping of six dominant cataract genes in the mouse. Genomics 1994:20:429-434.
44. Konyukhov BV. Wachtel AW: Electrophoretic studies of proteins in normal lenses and cataracts of inbred and mutant mice. Exp Eye Res 1963;2:325-330.
45. Moser GC, Gluecksohn-Waclsch S: Electrophoretic patterns of lens protein from genetically caused cataracts in the mouse. Exp Eye Res 1967:6:297-298.
46. Nishlmoto H. Uga S. Miyata M. Ishikawa S. Yamashita K: Morphological study of the cata-ractous lens of the senescence accelerated mouse. Grades Arch Clin Exp Ophthalmol 1993;231:722-728.
47. Clayton RM. Campbell JC: Small eye, a mutant in the house mouse apparently affecting the synthesis of extracellular membranes. J Physiol (Lond) 1968:198:74P-75P.
48. Roberts RC: Small-eyes, a new dominant mutant in the mouse. Genet Res 1967:9:121-122.
49. Dickie MM: Vacuolated lens. Mouse News Lett 1967;36:39.
50. Favor J. Pretsch W: Position of Xcat. a new X-linked cataract mutation. Mouse News Lett 1987;77:139.
51. Happlc R. Phillips RJS. Roessner A. Juneman G: Homologous genes for X-linked chondrodysplasia punctata in man and mouse. Hum Genet 1983;63:24-27.
52. Varnum D: Blind-sterile: A new mutation on chromosome 2 of the house mouse. J Hered 1983:74:206-207.
53. Graw J. Bors W. Gopinath PM. Merklc S, Michel C. Rcitmer P. Schaeffer E. Summer KH, Wulf TA: Characterization of Cat-2, a radiation-induced dominant cataract mutation in mice. Invest Ophthalmol Vis Sci 1990:31: 1353-1361.
54. Yoshiki M. Hanazono M. Oda S. Wakasugi M. Sakakura T. Kusakabe M: Developmental analysis of the eye lens obsolescence (Elo) gene in the mouse: Cell proliferation and Elo gene expression in the aggregation chimera. Development 1991;113:1293-1304.
55. Cartier M. Breitman ML. Tsui L: A frameshift mutation in the xE-crystallin gene of the Elo mouse. Nature Genet 1992:2:42-45.
56. Chase HB: Studies on an anophthalmic strain of mice. IV. A second major gene for anophthalmia. Genetics 1944;29:264-269.
57. March C. Chase HB. Gonsalves Nl: Studies on an anophthalmic strain of mice. VI. Lens and cup interaction. Dev Biol 1978:63:352-357.
58. Truslovc GM: The anatomy of the development of the fidget mouse. J Genet 1956:54:64-86.
59. Yakovlev ML Platonov ES. Konyukhov BV: A study of the effect of mutant genes on crystallin synthesis in the developing mouse lens. II. Genes fidget and ocular retardation. Ontogen-ez 1977;8:115-120.
60. Varnum D: Nuclear cataract (nuc). Mouse News Lett 1981:64:59.
61. West JD. Fisher G: Further experience of the mouse dominant cataract mutation test from an experiment with ethylnitrosourca. Mutat Res 1986;164:127-136.
62. Carper D. Smith-Gill SJ. Kinoshita JH: Immunochemical localization of the 27K betacrvstal-lin polypeptide in the mouse lens during development using a specific monoclonal antibody: Implications for cataract formation in the Philly mouse. Dev Biol 1986; 113:104-109.
63. Kador PF, Fukui HN, Fukushi S. Jernigan HM. Kinoshita JH: Phillv mouse: A new model of hereditary cataract. Exp Eye Res 1980:30: 59-68.
64. Piatigorsky J, Kador PF, Kinoshita JH: Differential synthesis and degradation of protein in the hereditary Philly mouse cataract. Exp Eye Res 1980:30:69-78.
65. Beasley AB: Inheritance and development of a lens abnormality in the mouse. J Morphol 1963:112:1-11.
66. Runge PE. Hawes NL, Heckenlivcly JR. Langley SH. Roderick TH: Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes. Invest Ophthalmol Vis Sci 1992;33:3202-3208.
67. Fraser FC. Herer ML: Lens rupture, a new recessive gene in the house mouse. J Hered 1948:39:149.
68. − gene in the house mouse. J Hered 1950;41:3-7.
69. Michael ML Khalil SH, Matta CA. Rizk TA: Malformations of the eye in the excncephalic tail-short mice during its development. Fund Dev Morphol 1992;2:179-185.
70. Breitman ML. Rombola H. Maxwell IH. Klint-worth GK. Bernstein A: Genetic ablation in transgenic mice with an attenuated diphtheria toxin-A gene. Mol Cell Biol 1990:10:474-479.
71. Eva A, Graziani G. Zannini M, Merin LM. Khillan JS. Ovcrbcek PA: Dominant dysplasia of the lens in transgenic mice expressing the dbl oncogene. New Biol 1991;3:158-168.
72. Griep AE. Herbcr R. Jeon S. Lohse JK. Dubiel-zig RR. Lambert PF: Tumorigenicity by human papillomavirus type 16 E6 and E7 in transgenic mice correlates with alterations in epithelial cell growth and differentiation. J Virol 1993:67:1373-1384.
73. Robinson ML, MacMillan-Crow LA, Thompson JA. Overbeek PA: Expression of a truncated FGF receptor results in defective lens development in transgenic mice. Development 1995:121:3959-3967.
74. Martin WD. Egan RM. Stevens JL, Woodward JG: Lens-specific expression of a major histocompatibility complex class I molecule disrupts normal lens development and induces cataracts in transgenic mice. Invest Ophthalmol Vis Sci 1995:36:1144-1154.
75. Tumminia SJ. Jonak GJ, Focht RJ. Cheng YE. Russell P: Cataractogenesis in transgenic mice containing the HIV-I protease linked to the lens a A-crystallin promoter. J Biol Chcm 1996:271:425-431.
76. Gotz W, Theuring F. Favor J. Herken R: Eye pathology in transgenic mice carrying a MSV-SV 40 large T-construct. Exp Eye Res 1991:52: 41-49.
77. Theuring F, Gotz W, Balling R. Korf HW. Schulze F, Herken R. Gruss P: Tumorigcncsis and eye abnormalities in transgenic mice expressing MSV-SV40 large T-antigcn. Oncogene 1990:5:225-232.
78. Propst F. Cork LC, Kovatch RM. Kasanclly AB. Wallace R. Rosenberg MP: Progressive hind limb paralysis in mice earn ing a v-mos transgene. J Neuropathol Exp Neurol 1992:51: 499-505.
79. Khillan JS. Oskarsson MK. Props! F. Kuwaba-ra T. VandeWoude GF. Wcstphal H: Defects in lens fiber differentiation are linked to c-mos overexpression in transgenic mice. Genes Develop 1987;1:1327-1335.
80. Dunia I. Smit JJM. van der Valk MA, Bloemendal H. Borst P. Beneditti EL: Human multidrug resistance 3-P-glycoprotein expression in transgenic mice induces lens membrane alterations leading to cataract. J Cell Biol 1996: 132:701-716.
81. Chcvcz-Barrios P. Schaffncr DL. Barrios R. Overbeek PA, Lebovitz RM. Lieberman MW: Expression of the ravT24 oncogene in the ciliary body pigment epithelium and retinal pigment epithelium results in hyperplasia, adenoma and adenocarcinoma. Am J Pathol 1993: 43:120-128.
82. Balkan W. Klintworth GK. Bock CB. Linney E: Transgenic mice expressing a constitutively active retinoic acid receptor in the lens exhibit ocular defects. Dev Biol 1992;151:622-625.
83. Decsi A. Pcilfcr RL, Qui T. Lee DC. Friday JT, Baulch VL: Lens expression of TGFa in transgenic mice produces two distinct eve pathologies in the absence of tumors. Oncogene I994;9: 1965-1975.
84. Robirson ML. Overbeek PA. Verran DJ. Grizzle WE. Stockard CR. Friosel R. Maciag T. Thompson JA: Extracellular FGF-1 acts as a lens differentiation factor in transgenic mice. Development 1995;121:505-514.
85. Marcus DM. Lasudry J, Carpenter JL, Windle J. Howes KA. Al-Ubaidi MR. Baehr W. Over-beck PA. Font RL, Albert DM: Trilateral tumors in four different lines of transgenic mice expressing SV40 T-antigen. Invest Ophthalmol Vis Sci 1996:37:392-396.
86. Pichel JG. Lakso M, Westphal H: Timing of SV40 oncogene activation by site-specific recombination determines subsequent tumor progression during murine lens development. Oncogene 1993;8:3333-3342.
87. Renekcr LW. Overbeek PA: Lens-specific expression of PDGF-A in transgenic mice results in retinal astrocytic hamartomas. Invest Ophthalmol Vis Sci 1996:37:2455-2466.
88. Landel CP. Xhao J. Bok D. Evans GA: Lens specific expression of recombinant ricin induces development defects in the eyes of transgenic mice. Genes Dev 1988;2:1168-1178.
89. Bryce DM. Liu Q. Khoo W. Tsui L. Breitman ML: Progressive and regressive fate of lens tumors correlates with subtle differences in transgene expression in xF-crvstallin-SV40 antigen transgenic mice. Oncogene 1993:8:1611-1620.
90. Capelanaki Y. Smith S. Health JP: Overexpression of the vimentin gene in transgenic mice inhibits normal lens cell differentiation. J Cell Biol 1989;109:1653-1664.