Abstract
Large deletions and other gross forms of chromosome imbalance are known in man but have rarely been found in the mouse. By screening progeny of spermatogonially irradiated male mice for a combination of runting and other phenotypic effects, we have identified animals that have large deletions comprising from 2.5–30 percent of the length of individual chromosomes, or other major chromosome changes, which are compatible with viability and fertility. Certain chromosome regions appear particularly susceptible to the generation of viable deletions and this has implications for radiation mutagenesis studies. Correlations with human deletions are also indicated.
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References
NIA Aging Cell Repository NIH Publication 85–2011 (1985).
Davisson, M.T. et al. Report of the comparative committee for human, mouse and other rodents. Cytogenet. cell Genet. 68, 1152–1189 (1991).
Dignan, P.St.J. & Soukup, S. Terminal long-Arm deletion of chromosome 1 in a male infant. Hum. Genet. 48, 151–156 (1979).
Franco, B. et al. Molecular characterization of a patient with del(1)(q23-q25). Hum. Genet. 87, 269–277 (1991).
Hoo, J.J., Haslam, R.H.A. & van Orman, C. Tentative assignment of piebald trait gene to chromosome band 4q12. Hum. Genet. 73, 230–231 (1986).
Vaux, C., Sheffield, L., Keith, C.G. & Voullaire, L. Evidence that Rieger syndrome maps to 4q25 or 4q27. J. med. Genet. 29, 256–258 (1991).
Sarda, P., Lefort, G., Fryns, J.P., Humeau, C. & Rieu, D. Interstitial deletion of the distal long arm of chromosome 4. J. med. Genet. 29, 259–261 (1992).
Korenberg, J.R. et al. Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion. Hum. Genet. 87, 112–118 (1991).
Searle, A.G. Numerical variants and structural rearrangements. Genetic Variants and Strains of the Laboratory Mouse 2nd edn (eds M.F. Lyon & A.G. Searle) 582 (Oxford University Press, Oxford, 1989).
Rinchik, E.M. & Russell, L.B. Germ-line deletion mutations in the mouse: tools for intensive functional and physical mapping of regions of the mammalian genome. Genome Analysis 1, 121–158 (1990).
Winking, H. & Silver, L.M. Characterization of a recombinant mouse t-haplotype that expresses a dominant lethal maternal effect. Genetics 108, 1013–1020 (1984).
Lyon, M.F., Glenister, P.H., Loutit, J.F., Evans, E.P. & Peters, J. A presumed deletion covering the W and Ph loci of the mouse. Genet. Res. 44, 161–168 (1984).
Cattanach, B.M. et al. Genetic and molecular evidence of an X-chromosome deletion spanning the tabby (Ta) and testicular feminization (Tfm) loci in the mouse. Cytogenet. Cell Genet. 56, 137–143 (1991).
Cattanach, B.M., Rasberry, C. & Beechey, C.V. A new steel allele with pre-implantation homozygous lethality. Mouse News Letter 80, 156–157 (1988).
Cattanach, B.M. & Rasberry, C. A new steel allele with early post-implantation homozygous lethality. Mouse News Lett. 80, 157–158 (1988).
Evans, E.P., Burtenshaw, M.D. & Cattanach, B.M. A large deletion at the Sl locus. Mouse News Lett. 81, 66 (1988).
Evans, E.P., Burtenshaw, M. & Cattanach, B.M. Deletions at the Sl locus. Mouse Genome 86, 230 (1990).
Cachiero, N.L.A. & Russell, L.B. Evidence that linkage group IV as well as linkage group X of the mouse are in chromosome 10. Genet. Res. 25, 193–195 (1975).
Beechey, C.V. & Searle, A.G. Mutations at the Sp locus. Mouse News Letter. 75, 28 (1986).
Evans, E.P., Burtenshaw, M.D., Beechey, C.V. & Searle, A.G. A splotch locus deletion visible by Giemsa banding. Mouse News Letter 81, 66 (1988).
Lyon, M. & Kirby, M. Mouse chromosome Atlas. Mouse Genome 90, 22–44 (1992).
Lyon, M.F. Gene order of Chy-vt-Re on chromosome 11. Mouse News Letter 74, 96 (1986).
Searle, A.G. Mutation induction in mice. Advances in Radiation Biology, Vol 4 (Academic Press, New York, 1974).
Cattanach, B.M. & Kirk, M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315, 496–498 (1985).
Cattanach, B.M., Evans, E.P., Rasberry, C., Wood, M. & Glenister, P.H. Rescue of a male sterile mutation by in vitro fertilisation. Mouse Genome 90, 87–89 (1992).
Schinzel, A. Phenotype in autosomal chromosome aberrations: Distinctiveness, variability and karyotypic correlations. in Progress and Topics in Cytogenetics Vol 8 (ed. Daniel, A.), 725–738 (Alan R. Liss, New York, 1988).
Miklos, G.L.G. Sex-chromosome pairing and male fertility. Cytogenet. Cell Genet. 13, 558–577 (1974).
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Cattanach, B., Burtenshaw, M., Rasberry, C. et al. Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse. Nat Genet 3, 56–61 (1993). https://doi.org/10.1038/ng0193-56
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DOI: https://doi.org/10.1038/ng0193-56
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