title: Mouse models of Prader-Willi Syndrome: a systematic review.
abstract: Prader-Willi Syndrome (PWS) is a neurodevelopmental genetic disorder caused by loss of expression of imprinted, paternally inherited genes on chromosome 15q11q13. This imprinted gene cluster has its homologous region on mouse chromosome 7C. The extremely well conserved synteny between the human and the murine regions gave origin to the generation of mouse models for PWS, which facilitated investigations of the role and function of single genes or gene clusters in the pathogenesis of this disease. In this review we will describe which mouse models have been generated so far and how they were developed; we will focus on the consequences of single genes' (or gene clusters') loss of expression on the phenotype, highlighting the similarities to the human PWS features. PWS mouse models have brought major improvements in our knowledge about this complex condition, although the mechanisms implicated in its pathogenesis still remain not fully understood.
authors: Neuroscience Research Program, The Garvan Institute of Medical Research, 384 Victoria Street, Sydney-Darlinghurst, NSW 2010, Australia.
authors: Sandrina
authors: S
authors: Bervini
authors: Herbert
authors: H
authors: Herzog
mesh_terms: D000818:Animals; D000951:Antigens, Neoplasm / Q000235:genetics; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004195:Disease Models, Animal; D018392:Genomic Imprinting; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D005810:Multigene Family / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000172:deficiency; D009687:Nuclear Proteins / Q000172:deficiency / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D020537:RNA, Small Nucleolar / Q000235:genetics; D026801:Synteny; D055517:snRNP Core Proteins / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins
chemical_list: D000951:Antigens, Neoplasm; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; D020537:RNA, Small Nucleolar; D055517:snRNP Core Proteins; C403091:Magel2 protein, mouse; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins; C445239:SNURF protein, human; C069766:necdin