Abstract
A cataract is an opacity of the lens causing a reduction of visual function [1]. The organogenesis of the lens in various mammals is similar [2], Therefore, a gene, which disturbs in different species the same process of the normal development of the lens, leads to the manifestation of the same cataract type in these different species. Ehling [3] pointed out that morphologically comparable cataracts in humans and mammals have very often the same mode of inheritance. Marner [4] described in humans the transmission of a zonular cataract through 8 generations. A similar cataract with dominant inheritance was described for dogs [5, 6], rabbits [7], and rats [8]. These examples may be sufficient to emphasize that cataract mutations observed in the mouse can be directly compared with the manifestation of cataracts in man.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
J. Francois, Congenital Cataracts, Royal VanGorcum Ltd., Assen, Netherlands (1963).
E. von Hippel, Die Mißbildungen des Auges, in: Die Morphologie der Mißbildungen des Menschen und der Tiere, E. Schwalbe, ed., Teil III, 1. Lieferung, pp. 1–66, Gustav Fischer, Jena (1909).
U. Ehling, Vererbung von Augenleiden im Tierreich, 65. Bericht Dtsch. Opthm. Ges. Heidelberg 1963, pp. 228–238.
E. Marner, A family with eight generations of hereditary cataract, Acta Opthalm., 27:537–551 (1949).
M. Westhues, Der Schichtstar des Hundes, Arch. Tierheilk., 54: 32–83 (1926).
E. von Hippel, Embryologische Untersuchungen über Vererbung angeborener Katarakt, über Schichtstar des Hundes sowie über eine besondere Form von Kapselkatarakt, Graefes Arch. für Ophthalmologie, 124:300–324 (1930).
U. Ehling, Untersuchungen zur kausalen Genese erblicher Katarakte beim Kaninchen, Z. menschl. Vererb.- und Konstitutions lehre, 34:77–104 (1957).
S. E. Smith and B. F. Barrentine, Hereditary cataract, A new dominant gene in the rat, J. Hered., 34:8–10 (1943).
U. H. Ehling, Dominant mutations affecting the skeleton in offspring of x-irradiated male mice, Genetics, 54:1381–1389 (1966).
P. S. Selby, Induced skeletal mutations, Genetics, 92:s127–s133 (1979).
J. Kratochvilova and U. H. Ehling, Dominant cataract mutations induced by γ-irradiation of male mice, Mutation Res., 63:221–223 (1979).
U. H. Ehling, J. Favor, J. Kratochvilova, and A. Neuhäuser-Klaus, Dominant cataract mutations and specific-locus mutations in mice induced by radiation or ethylnitrosourea, Mutation Res., 92:181–192 (1982).
U. H. Ehling, Die Gefährdung der menschlichen Erbanlagen im technischen Zeitalter, Fortsch. Röntgenstr., 124:166–171 (1976).
U. H. Ehling, Estimation of the frequency of radiation-induced dominant mutations, ICRP, CI-TG14, Task Group on Genetically Determined Ill-Health (1976).
U. H. Ehling, Risk estimations based on germ-cell mutations in mice, in: “Environmental Mutagens and Carcinogens,” Proceedings of the 3rd International Conference on Environmental Mutagens, T. Sugimura, S. Kondo, and H. Takebe, eds., pp. 709–719, University of Tokyo Press, Tokyo/Alan R. Liss, Inc., New York (1982).
V. A. McKusick, Mendelian Inheritance in Man, 5th Edition, The Johns Hopkins University Press, Baltimore-London (1978).
U. H. Ehling, Strahlengenetisches Risiko des Menschen, Umschau, 80:754–759 (1980).
J. Kratochvilova, Dominant cataract mutations detected in offspring of gamma-irradiated male mice, J. Hered., 72:302–307 (1981).
J. Favor, ENU-induced dominant cataract mutations in mice, 13th Annual Meeting of the Environmental Mutagen Society (USA), Boston, Massachusettes, 25.2–2.3.1982, p. 81.
J. Favor, The penetrance value tested of a presumed dominant mutation heterozygote in a genetic confirmation test for a given number of offspring observed, Mutation Res., 92:192 (1982).
R. A. Fisher, Statistical Methods for Research Workers, Oliver and Boyd, Edinburgh (1950).
E. L. Crow and R. S. Gardner, Confidence intervals for the expectation of a poisson variable, Biometrika, 46:441–453 (1959).
M. L. Watson, Blind - a dominant mutation in mice, J. Hered., 59:60–64 (1968).
R. G. Tissot and C. Cohen, A new congenital cataract in the mouse, J. Hered., 63:197–201 (1972).
O. E. Paget, Cataracta hereditaria subcapsularis: Ein neues, dominantes Allel bei der Hausmaus, Z. Indukt. Abstamm. Vererbungsl., 85:238–244 (1953).
A. C. Verrusio and F. C. Fraser, Identity of mutant genes “Shrivelled” and cataracta congenita subcapsularis in the mouse, Genet. Res., Camb., 8:377–378 (1966).
B.V. Konyukhov and N. A. Kolesova, A study of effects of the mutant gene CATFr single dose in ontogenesis of mice, Ontogenesis, Academy of Sciences, USSR, 12:298–305 (1981).
M. Hatara, R. Shoji, and R. Semba, Genetic background and expressivity of congenital cataract in mice, Japan. J. Genetics, 53:147–152 (1978).
K. Theiler, D. S. Varnum, and L. C. Stevens, Development of Dickie’s small eye, a mutation in the house mouse, Anat. Embryol., 155:81–86 (1978).
S. Oda, T. Watanabe, and K. Kondo, A new mutation, eye lens obsolesence, Elo on chromosome 1 in the mouse, Japan. J. Genetics, 55:71–75 (1980).
J. S. Gower, Research communication, Mouse Newslett., 8:14 (Suppl.) (1953).
M. F. Lyon, S. E. Jarvis, I. Sayers, and R. S. Holmes, Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse, Genet. Res., Camb., 38:337–341 (1981).
Mouse News Letter, No. 65, July 1981, A. G. Searle, ed., M. R. C. Laboratories, Carshalton, England.
U. H. Ehling, Specific-locus mutations in mice, in: “Chemical Mutagens,” A. Hollaender and F. J. de Serres, eds., Vol. 5,” pp. 233–256, Plenum Press, New York (1978).
L. B. Russell, P. B. Selby, E. von Halle, W. Sheridan, and L. Valcovic, The mouse specific-locus test with agents other than radiations, Interpretation of data and recommendations for future work, Mutation Res., 86:329–354 (1981).
U. H. Ehling, In vivo gene mutations in mammals, Proc. of the Symposium “Critical Evaluation of Mutagenicity Tests,” Bundesgesundheit samt, Berlin, 22.–25.2.1982, Walter de Gruyter, Berlin-New York (in press).
H. J. Muller, Radiation damage to the genetic material, Am. Sci., 38:33–59 (1950).
M. F. Lyon, D. G. Papworth, and R. J. S. Phillips, Dose-rate and mutation frequency after irradiation of mouse spermatogonia, Nature, 238:101–104 (1972).
W. L. Russell, Studies in mammalian radiation genetics, Nucleonics, 23:53–56, 62 (1965).
J. Favor, A. Neuhäuser-Klaus, and U. H. Ehling, A comparison of ENU induced dominant cataracts and recessive mutations in spermatogonia of mice, 12th Annual Meeting of the European Environmental Mutagen Society, Dipoli, Espoo, Finland, 20.–24.6. 1982, p. 188.
U. H. Ehling and A. Neuhäuser, Procarbazine-induced specific- locus mutations in male mice, Mutation Res., 59:245–256 (1979).
W. L. Russell, L. B. Russell, and E. F. Oakberg, Radiation genetics of mammals, in: “Radiation Biology and Medicine,” W. D. Claus, ed., pp. 189–205, Addison-Wesley, Reading, Mass., USA (1958).
U. H. Ehling, Induction of gene mutations in germ cells of the mouse, Arch. Toxicol., 46:123–138 (1980).
UNSCEAR-Report (United Nations Scientific Committee on the Effects of Atomic Radiation), Supplement No. 14, United Nations, New York (1966) (Quotation page 8).
BEIR-Report (Biological Effects of Ionizing Radiations), The Effects on Populations of Exposure to Low Levels of Ionizing Radiation: 1980, National Academy Press, Washington, D.C. (1980) (Quotation page 82).
K. Sankaranarayanan, Genetic Effects of Ionizing Radiation in Multicellular Eukaryotes and the Assessment of Genetic Radiation Hazards in Man, Elsevier Biomedical Press, Amsterdam (1982).
W. L. Russell, Mutation frequencies in female mice and the estimation of genetic hazards of radiation in women, Proc. Natl. Acad. Sci. USA, 74:3523–3527 (1977).
S. Abrahamson, M. A. Bender, A. D. Conger, and S. Wolff, Uniformity of radiation-induced mutation rates among different species, Nature, 245:460–462 (1973).
UNSCEAR-Report (United Nations Scientific Committee on the Effects of Atomic Radiation), Sources and Effects of Ionizing Radiation, United Nations, New York (1977).
W. Jacobi, H. G. Paretzke, and U. H. Ehling, Strahlenexposition und Strahlenrisiko der Bevölkerung, GSF-Bericht S-710, Gesellschaft für Strahlen- und Umweltforschung, Neuherberg (1981).
U. H. Ehling, Evaluation of presumed dominant skeletal mutations, in: “Chemical Mutagenesis in Mammals and Man,” F. Vogel and G. Röhrborn, eds., pp. 162–166, Springer-Verlag, Berlin- Heidelberg-New York (1970).
K. S. Brown, R. E. Cranley, R. Greene, H. K. Kleinman, and J. P. Pennypacker, Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix, J. Embryol. Exp. Morph., 62:165–182 (1981).
H. B. Newcombe, Mutation and the amount of human ill health, in: “Radiation Research — Biomedical, Chemical, and Physical Perspectives,” Proc. 5th Intern. Congr. Rad. Res. 1974, O. F. Nygaard, H. I. Adler, and W. R. Sinclair, eds., pp. 937–946, Academic Press, New York-San Francisco-London (1975).
W. Pretsch, D. J. Charles, and J. Kratochvilova, Untersuchungen an Linsenextrakten von Mäusen mit erblicher Katarakt: Ultradünnschicht-isoelektrische Fokussierung und Enzymanalysen, in: “Elektrophorese Formum ’80,” B. J. Radola, ed., pp. 75–80, Technische Universität München (1980).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1983 Plenum Press, New York
About this chapter
Cite this chapter
Ehling, U.H. (1983). Cataracts — Indicators for Dominant Mutations in Mice and Man. In: de Serres, F.J., Sheridan, W. (eds) Utilization of Mammalian Specific Locus Studies in Hazard Evaluation and Estimation of Genetic Risk. Environmental Science Research, vol 28. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-3739-3_11
Download citation
DOI: https://doi.org/10.1007/978-1-4613-3739-3_11
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-3741-6
Online ISBN: 978-1-4613-3739-3
eBook Packages: Springer Book Archive