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Human Molecular Genetics Advance Access originally published online on September 30, 2004
Human Molecular Genetics 2004 13(23):2971-2977; doi:10.1093/hmg/ddh314
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Human Molecular Genetics, Vol. 13, No. 23 © Oxford University Press 2004; all rights reserved

Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice

Stormy J. Chamberlain1,{dagger}, Karen A. Johnstone1, Amanda J. DuBose1, Thomas A. Simon1, Marisa S. Bartolomei2, James L. Resnick1,* and Camilynn I. Brannan1,{dagger}{dagger}

1Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Box 100266, Gainesville, FL 32610, USA and 2Howard Hughes Medical Institute and Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA

Received August 13, 2004; Accepted September 20, 2004

Prader–Willi syndrome (PWS), most notably characterized by infantile hypotonia, short stature and morbid obesity, results from deficiencies in multiple genes that are subject to genomic imprinting. The usefulness of current mouse models of PWS has been limited by postnatal lethality in affected mice. Here, we report the survival of the PWS-imprinting center (IC) deletion mice on a variety of strain backgrounds. Expression analyses of the genes affected in the PWS region suggest that while there is low-level expression from both parental alleles in PWS-IC deletion pups, this expression does not explain their survival on certain strain backgrounds. Rather, the data provide evidence for strain-specific modifier genes that support the survival of PWS-IC deletion mice.

* To whom correspondence should be addressed. Tel: +1 3523923258; Fax: +1 3523923133; Email: resnick{at}mgm.ufl.edu


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