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Intraspecific mating with CzechII/Ei mice rescue lethality associated with loss of function mutations of the imprinted genes, Igf2r and Cdkn1c

  1. Author:
    Hagan, J. P.
    Kozlov, S. V.
    Chiang, Y. S.
    Sewell, L.
    Stewart, C. L.

  2. Author Address

    NCI FCRDC, Ctr Canc Res, Canc & Dev Biol Lab, NIH, Frederick, MD 21702 USA. Stanford Univ, Dept Biol Sci, Stanford, CA 94305 USA Stewart, CL, NCI FCRDC, Ctr Canc Res, Canc & Dev Biol Lab, NIH, POB B, Frederick, MD 21702 USA
    1. Year: 2004
    2. Date: NOV
  2. Journal: Genomics
    1. 84
    2. 5
    3. Pages: 836-843
  4. Type of Article: Article
  1. Abstract:

    Maternal inheritance of targeted loss of function alleles encoding either the eye] in-dependent kinase inhibitor I C (Cdkn 1c) or the insulin-like growth factor 2 receptor (Igf2r) leads to fully penetrant perinatal lethality in C57BL/6J mice due to genomic imprinting. Here, we demonstrate that there is a marked enhancement in posmatal viability of F-1 mice carrying either the ablated Igf2r (-32%) or Cdkn1c (-83%) when the paternal genome was derived from the inbred Mus musculus muscidus CzechII/Ei strain. Genetic and molecular analyses indicated that the increased viability was not caused by relaxation of imprinted gene expression, but is the consequence of unidentified polygenic modifiers that are not imprinted. In the course of this study, restriction-site polymorphisms between 129S1 and CzechII/Ei in 21 imprinted and 14 biallelically expressed genes were identified. These polymorphisms may prove useful in determining the effects of different mutant backgrounds on genomic imprinting. Published by Elsevier Inc

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External Sources

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  2. DOI: 10.1016/j.ygeno.2004.07.007
  3. View record in Web of Science®
  4. WOS: 000224724900007

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