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Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice

Nature Genetics volume 6, pages 357–362 (1994)Cite this article

Abstract

Neural tube defects (NTD) in humans have been considered to have a multifactorial aetiology, however the participating genes have not been identified. The curly–tail (ct) mutant mouse develops NTD that resemble the human malformations in location, pathology and associated abnormalities. Moreover, there appears to be multifactorial influence on the incidence of NTD in offspring of curly–tail mice. We now describe a linkage analysis that localizes the ct gene to distal chromosome 4 in mice. Further analysis using recombinant inbred strains demonstrates the presence of at least three modifier loci that influence the incidence of NTD. This study provides definitive evidence for multifactorial inheritance in a mouse model of human NTD.

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Author notes

  1. Paul E. Neumann

    Present address: Department of Anatomy & Neurobiology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, B3H4H7, Canada

Authors and Affiliations

  1. Department of Neurology, Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    Paul E. Neumann

  2. Department of Molecular Biology, Tufts University School of Medicine, 136 Harrison Avenue, Boston, Massachusetts, 02111, USA

    Wayne N. Frankel & John M. Coffin

  3. The Jackson Laboratory, Bar Harbor, Maine, 04609, USA

    Wayne N. Frankel & Verity A. Letts

  4. Institute of Child Health, University of London, 30 Guilford St., London, WC1N 1EH, UK

    Andrew J. Copp

  5. Joint Program in Neonatology, Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    Merton Bernfield

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  2. Wayne N. Frankel
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Neumann, P., Frankel, W., Letts, V. et al. Multifactorial inheritance of neural tube defects: localization of the major gene and recognition of modifiers in ct mutant mice. Nat Genet 6, 357–362 (1994). https://doi.org/10.1038/ng0494-357

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