Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse

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.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. NIA Aging Cell Repository NIH Publication 85–2011 (1985).

  2. Davisson, M.T. et al. Report of the comparative committee for human, mouse and other rodents. Cytogenet. cell Genet. 68, 1152–1189 (1991).

    Article  Google Scholar 

  3. Dignan, P.St.J. & Soukup, S. Terminal long-Arm deletion of chromosome 1 in a male infant. Hum. Genet. 48, 151–156 (1979).

    Article  CAS  Google Scholar 

  4. Franco, B. et al. Molecular characterization of a patient with del(1)(q23-q25). Hum. Genet. 87, 269–277 (1991).

    Article  CAS  Google Scholar 

  5. 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).

    Article  CAS  Google Scholar 

  6. 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).

    Article  Google Scholar 

  7. 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).

    Article  CAS  Google Scholar 

  8. Korenberg, J.R. et al. Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion. Hum. Genet. 87, 112–118 (1991).

    Article  CAS  Google Scholar 

  9. 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).

    Google Scholar 

  10. 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).

    CAS  Google Scholar 

  11. Winking, H. & Silver, L.M. Characterization of a recombinant mouse t-haplotype that expresses a dominant lethal maternal effect. Genetics 108, 1013–1020 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  12. 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).

    Article  CAS  Google Scholar 

  13. 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).

    Article  CAS  Google Scholar 

  14. Cattanach, B.M., Rasberry, C. & Beechey, C.V. A new steel allele with pre-implantation homozygous lethality. Mouse News Letter 80, 156–157 (1988).

    Google Scholar 

  15. Cattanach, B.M. & Rasberry, C. A new steel allele with early post-implantation homozygous lethality. Mouse News Lett. 80, 157–158 (1988).

    Google Scholar 

  16. Evans, E.P., Burtenshaw, M.D. & Cattanach, B.M. A large deletion at the Sl locus. Mouse News Lett. 81, 66 (1988).

    Google Scholar 

  17. Evans, E.P., Burtenshaw, M. & Cattanach, B.M. Deletions at the Sl locus. Mouse Genome 86, 230 (1990).

    Google Scholar 

  18. 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).

    Article  Google Scholar 

  19. Beechey, C.V. & Searle, A.G. Mutations at the Sp locus. Mouse News Letter. 75, 28 (1986).

    Google Scholar 

  20. 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).

    Google Scholar 

  21. Lyon, M. & Kirby, M. Mouse chromosome Atlas. Mouse Genome 90, 22–44 (1992).

    Google Scholar 

  22. Lyon, M.F. Gene order of Chy-vt-Re on chromosome 11. Mouse News Letter 74, 96 (1986).

    Google Scholar 

  23. Searle, A.G. Mutation induction in mice. Advances in Radiation Biology, Vol 4 (Academic Press, New York, 1974).

    Google Scholar 

  24. Cattanach, B.M. & Kirk, M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315, 496–498 (1985).

    Article  CAS  Google Scholar 

  25. 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).

    Google Scholar 

  26. 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).

    Google Scholar 

  27. Miklos, G.L.G. Sex-chromosome pairing and male fertility. Cytogenet. Cell Genet. 13, 558–577 (1974).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0193-56

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing