title: Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.
abstract: Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or more PWS candidate genes have partially correlated individual genes with aspects of the PWS phenotype, although the genetic origin of defects in growth and metabolism has not been elucidated. Gene-targeted mutation of the PWS candidate gene Magel2 in mice causes altered circadian rhythm output and reduced motor activity. We now report that Magel2-null mice exhibit neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism in adulthood, recapitulating fundamental aspects of the PWS phenotype. Magel2-null mice provide an important opportunity to examine the physiological basis for PWS neonatal failure to thrive and post-weaning weight gain and for the relationships among circadian rhythm, feeding behavior, and metabolism.
authors.affiliation: Department of Medical Genetics, University of Alberta, 8-16 Medical Sciences Building, Edmonton, AB, Canada T6G 2H7.
authors.forename: Jocelyn M
authors.initials: JM
authors.lastname: Bischof
authors.forename: Colin L
authors.initials: CL
authors.lastname: Stewart
authors.forename: Rachel
authors.initials: R
authors.lastname: Wevrick
mesh_terms: D000818:Animals; D000831:Animals, Newborn / Q000002:abnormalities / Q000254:growth & development*; D000951:Antigens, Neoplasm / Q000235:genetics*; D001835:Body Weight / Q000235:genetics*; D004195:Disease Models, Animal; D005260:Female; D020868:Gene Silencing / Q000502:physiology*; D018392:Genomic Imprinting; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000378:metabolism; D011506:Proteins / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins
chemical_list: D000951:Antigens, Neoplasm; D011506:Proteins; C403091:Magel2 protein, mouse; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins