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Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition.

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. Haploinsufficiency for the 6 genes in this interval resulted in no gross morphological defects and behavioral analysis performed using an open field test, a test of anxiety, and tests for social interaction were normal in monosomic mice. Monosomic mice did, however, display impaired memory retention compared to control animals. Moreover, when fed a high-fat diet (HFD) monosomic mice exhibited a significant increase in fat mass/fat percentage estimate compared with controls, severe fatty changes in their livers, and thickened subcutaneous fat. Thus, genes within the Lipi-Usp25 interval may participate in memory retention and in the regulation of fat deposition.

Pubmed ID: 22276124


  • Migdalska AM
  • van der Weyden L
  • Ismail O
  • White JK
  • Sanger Mouse Genetics Project
  • S├ínchez-Andrade G
  • Logan DW
  • Arends MJ
  • Adams DJ


PloS one

Publication Data

January 25, 2012

Associated Grants

  • Agency: Wellcome Trust, Id: 098330
  • Agency: Cancer Research UK, Id: 13031
  • Agency: Cancer Research UK, Id:
  • Agency: Wellcome Trust, Id:

Mesh Terms

  • Absorptiometry, Photon
  • Animals
  • Behavior, Animal
  • Blotting, Southern
  • Cell Line
  • Chromosome Deletion
  • Chromosomes, Human, Pair 21
  • Diet, High-Fat
  • Female
  • Haploinsufficiency
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Male
  • Maze Learning
  • Mice
  • Monosomy
  • Recognition (Psychology)
  • Reverse Transcriptase Polymerase Chain Reaction