Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition

@inproceedings{Migdalska2012ModelingPM,
  title={Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition},
  author={Anna M. Migdalska and Louise van der Weyden and Ozama Ismail and Jacqueline K. White and Sanger Mouse Genetics Project and Gabriela S{\'a}nchez-Andrade and Darren W. Logan and Mark J Arends and David J. Adams},
  booktitle={PloS one},
  year={2012}
}
Haploinsufficiency of part of human chromosome 21 results in a rare condition known as Monosomy 21. This disease displays a variety of clinical phenotypes, including intellectual disability, craniofacial dysmorphology, skeletal and cardiac abnormalities, and respiratory complications. To search for dosage-sensitive genes involved in this disorder, we used chromosome engineering to generate a mouse model carrying a deletion of the Lipi-Usp25 interval, syntenic with 21q11.2-q21.1 in humans… CONTINUE READING
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