Hostname: page-component-78c5997874-v9fdk Total loading time: 0 Render date: 2024-11-04T19:06:29.880Z Has data issue: false hasContentIssue false
  • English
  • Français

Characterization of dominant cataract mutations in mice: penetrance, fertility and homozygous viability of mutations recovered after 250 mg/kg ethylnitrosourea paternal treatment

Published online by Cambridge University Press:  14 April 2009

Jack Favor
Jack Favor
Affiliation:
Institut für Genetik, Gesellschaft für Strahlen- und Umweltforschung Neuherberg, Federal Republic of Germany D-8042

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Seventeen dominant cataract mutations of the mouse recovered in ethylnitrosourea mutagenesis experiments have been genetically characterized as to penetrance, fertility, and homozygous viability. Nine mutations were shown to be fully penetrant with no fertility effects, four mutations were classified as having reduced penetrance with no fertility effects, one mutation had reduced penetrance and reduced fertility, two mutations were shown to have a reduced frequency of mutant offspring due to penetrance and viability effects, and one mutation most likely has a reduced viability of carrier individuals. Of the eleven mutations for which definitive homozygous viability data were obtained, ten were shown to be homozygous viable and only one was shown to be homozygous lethal. In similar experiments in which dominant cataract, dominant skeletal or dominant visible mutations were recovered after radiation treatment, comparable frequencies of mutations with reduced penetrance were observed but there was a strikingly higher frequency of homozygous lethal mutations. These observations support the hypothesis of a qualitative difference in the mutations recovered after ethylnitrosourea as compared to radiation treatment. Finally, it is argued that a systematic comparison of the induced mutation rates to dominant and recessive alleles with subsequent genetic characterization of the recovered mutations provides a critical set of data necessary for an improvement in the indirect and direct procedures of genetic risk estimation.

Type
Research Article
Information
Genetics Research , Volume 44 , Issue 2 , October 1984 , pp. 183 - 197
Copyright
Copyright © Cambridge University Press 1984

References

REFEEENCES

Batchelor, A. L., Phillips, R. J. S. & Searle, A. G. (1966). A comparison of the mutagenic effectiveness of chronic neutron- and Υ-irradiation of mouse spermatogonia. Mutation Research 3, 218–229.CrossRefGoogle ScholarPubMed
Childs, J. D. (1981). The effect of a change in mutation rate on the incidence of dominant and X-linked recessive disorders in man. Mutation Research 83, 145–158.CrossRefGoogle ScholarPubMed
Dixon, W. J., Brown, M. B., Engelman, L., Frane, J. W., Hill, A. A., Jennrich, R. I. & Toporek, J. D. (1981). BMDP Statistical Software, University of California Press, Berkeley.Google Scholar
Ehling, U. H. (1976). Mutagenicity testing and risk estimation with mammals. Mutation Research 41, 113–122.CrossRefGoogle ScholarPubMed
Ehling, U. H. (1983). Cataracts - indicators for dominant mutations in mice and man. In Utilization of Mammalian Specific Locus Studies in Hazard Evaluation and Estimation of Genetic Risk (ed. de Serres, F. J. and Sheridan, W.), pp. 169–190. New York: Plenum.CrossRefGoogle Scholar
Ehling, U. H. & Neuhäuser, A. (1979). Procarbazine-induced specific-locus mutations in male mice, Mutation Research 59, 245–256.CrossRefGoogle ScholarPubMed
Ehling, U. H., Favor, J., Kratochvilova, J. & Neuhäuser-Klaus, A. (1982). Dominant cataract mutations and specific-locus mutations in mice induced by radiation or ethylnitrosourea. Mutation Research 92, 181–192.CrossRefGoogle ScholarPubMed
Favor, J. (1983). A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutation Research 110, 367–382.CrossRefGoogle ScholarPubMed
Kratochvilova, J. (1981). Dominant cataract mutations detected in offspring of gamma-irradiated male mice. Journal of Heredity 72, 302–307.CrossRefGoogle ScholarPubMed
Kratochvilova, J. & Ehling, U. H. (1979). Dominant cataract mutations induced by Υ-irradiation of male mice. Mutation Research 63, 221–223.CrossRefGoogle ScholarPubMed
Lüning, K. G. & Searle, A. G. (1971). Estimates of the genetic risks from ionizing irradiation. Mutation Research 12, 291–304.CrossRefGoogle ScholarPubMed
Lyon, M. F., Phillips, R. J. S. & Fisher, G. (1979). Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutation Research 63, 161–173.CrossRefGoogle ScholarPubMed
Selby, P. B. (1982). Radiation-induced dominant skeletal mutations in mice: mutation rate, characteristics, and usefulness in estimating genetic hazard to humans from radiation. In Environmental Mutagens and Carcinogens (Proceedings of the 3rd International Conference on Environmental Mutagens) (ed. Sugimura, T., Kondo, S. and Takebe, H.), pp. 59–70Tokyo: University of Tokyo Press; Inc., New York: Alan R. Liss.Google Scholar
Selby, P. B. & Selby, P. R. (1977). Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. I. Plan, summary of results and discussion. Mutation Research 43, 357–375.CrossRefGoogle ScholarPubMed
Selby, P. B. & Selby, P. R. (1978). Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations. Mutation Research 51, 199–236.CrossRefGoogle ScholarPubMed
UNSCEAR-Report (1982). (United Nations Scientific Committee on the Effects of Atomic Radiation.) Ionizing Radiation: Sources and Biological Effects. New York: United Nations.Google Scholar