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Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus

Published online by Cambridge University Press:  14 April 2009

Jack Favor*
Affiliation:
GSF-Institut für Säugetiergenetik, D-8042 Neuherberg, Federal Republic of Germany
Walter Pretsch
Affiliation:
GSF-Institut für Säugetiergenetik, D-8042 Neuherberg, Federal Republic of Germany
*
* Corresponding author.
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Linkage data relative to the markers tabby and glucose-6-phosphate dehydrogenase are presented to locate X-linked cataract (Xcat) in the distal portion of the mouse X-chromosome between jimpy and hypophosphatemia. The human X-linked cataract-dental syndrome, Nance–Horan Syndrome, also maps closely to human hypophosphatemia and would suggest homology between mouse Xcat and human Nance-Horan Syndrome genes. In hemizygous males and homozygous females penetrance is complete with only slight variation in the degree of expression. Phenotypic expression in Xcat heterozygous females ranges from totally clear to totally opaque lenses. The phenotypic expression between the two lenses of a heterozygous individual could also vary between totally clear and totally opaque lenses. However, a correlation in the degree of expression between the eyes of an individual was observed. A variegated pattern of lens opacity was evident in female heterozygotes. Based on these observations, the site of gene action for the Xcat locus is suggested to be endogenous to the lens cells and the precursor cell population of the lens is concluded to be small. The identification of an X-linked cataract locus is an important contribution to the estimate of the number of mutable loci resulting in cataract, an estimate required so that dominant cataract mutagenesis results may be expressed on a per locus basis. The Xcat mutation may be a useful marker for a distal region of the mouse X-chromosome which is relatively sparsely marked and the X-linked cataract mutation may be employed in gene expression and lens development studies.

Type
Research Article
Copyright
Copyright © Cambridge University Press 1990

References

Charles, D. J. & Pretsch, W. (1987). Linear dose-response relationship of erythrocyte enzyme-activity mutations in offspring of ethylnitrosourea-treated mice. Mutation Research 176, 8191.CrossRefGoogle ScholarPubMed
Davisson, M. T. & Roderick, T. H. (1989). Linkage Map. In Genetic Variants and Strains of the Laboratory Mouse (ed. Lyon, M. F. and Searle, A. G.), 2nd Ed., pp. 413427. Oxford, New York and Tokyo: Oxford University Press.Google Scholar
Ehling, U. H. (1985). Induction and manifestation of hereditary cataracts. In Assessment of Risk from Low-Level Exposure to Radiation and Chemicals, (ed. Woodhead, A. D., Shellabarger, C. J., Pond, V. and Hollaender, A.), pp. 345368. New York: Plenum Publishing Corp.CrossRefGoogle Scholar
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, 181192.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, 367382.CrossRefGoogle ScholarPubMed
Favor, J. (1986). The frequency of dominant cataract and recessive specific-locus mutations in mice derived from 80 or 160mg ethylnitrosourea per kg body weight treated spermatogonia, Mutation Research 162, 6980.CrossRefGoogle ScholarPubMed
Favor, J. & Pretsch, W. (1987). Position of Xcat, a new X-linked cataract mutation, Mouse News Letters 77, 139.Google Scholar
Favor, J., Neuhäuser-Klaus, A. & Ehling, U. H. (1987). Radiation-induced forward and reverse specific locus mutations and dominant cataract mutations in treated strain BALB/c and DBA/2 male mice, Mutation Research 177, 161169.CrossRefGoogle ScholarPubMed
Favor, J., Neuhäuser-Klaus, A. & Ehling, U. H. (1988). The effect of dose fractionation on the frequency of ethylnitrosourea-induced dominant cataract and recessive specific locus mutations in germ cells of the mouse. Mutation Research 198, 269275.CrossRefGoogle ScholarPubMed
Favor, J., Neuhäuser-Klaus, A. & Ehling, U. H. (1990). The frequency of dominant cataract and recessive specificlocus mutations and mutation mosaics in F1 mice derived from post-spermatogonial treatment with ethylnitrosourea, Mutation Research 229, 105114.CrossRefGoogle ScholarPubMed
Graw, J., Favor, J., Neuhäuser-Klaus, A. & Ehling, U. H. (1986). Dominant cataract and recessive specific locus mutations in offspring of X-irradiated male mice, Mutation Research 159, 4754.CrossRefGoogle ScholarPubMed
Green, M. C. (1989). Catalog of mutant genes and polymorphic loci. In Genetic Variants and Strains of the Laboratory Mouse (ed. Lyon, M. F. and Searle, A. G.) 2nd ed., pp. 12403. Oxford, New York and Tokyo: Oxford University PressGoogle Scholar
Kratochvilova, J. (1981). Dominant cataract mutations detected in offspring of gamma-irradiated male mice, Journal of Heredity 72, 302307.CrossRefGoogle ScholarPubMed
Kratochvilova, J. & Ehling, U. H. (1979). Dominant cataract mutations induced by Υ-irradiation of male mice, Mutation Research 63, 221223.CrossRefGoogle ScholarPubMed
Kratochvilova, J. & Favor, J. (1988). Phenotypic characterization and genetic analysis of twenty dominant cataract mutations detected in offspring of irradiated male mice, Genetical Research 52, 125134.CrossRefGoogle ScholarPubMed
Kratochvilova, J., Favor, J. & Neuhäuser-Klaus, A. (1988). Dominant cataract and recessive specific-locus mutations detected in offspring of procarbazine-treated male mice, Mutation Research 198, 295301.CrossRefGoogle ScholarPubMed
McKusick, V. A. (1989). Mendelian Inheritance in Man. 8th Ed., Baltimore and London: The Johns Hopkins University Press.Google Scholar
Peters, J., Ball, S. T., Charles, D. J., Pretsch, W., Bulfield, G., Miller, D. & Chapman, V. M. (1988). The localization of G6pd, glucose-6-phosphate dehydrogenase, and max, muscular dystrophy in the mouse X chromosome, Genetical Research 52, 195201.CrossRefGoogle Scholar
Pretsch, W., Charles, D. J. & Merkle, S. (1988). X-linked glucose-6-phosphate dehydrogenase deficiency in Mus musculus, Biochemical Genetics 26, 89103.CrossRefGoogle ScholarPubMed
West, J. D. (1978). Clonal growth versus cell mingling. In Genetic Mosaics and Chimeras in Mammals (ed. Russell, L. B.), pp. 361377. New York and London: Plenum Publishing Corp.CrossRefGoogle Scholar