ArticleProceedings of the National Academy of Sciences of the United States of America1999
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 121 citations in OpenAlex.
- Recommendations for the investigation of animal models of Prader-Willi syndrome.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Guideline
- Investigation of a mouse model of Prader-Willi Syndrome with combined disruption of Necdin and Magel2.JCI insight · 2025Article
- Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics.Current opinion in neurobiology · 2023Review
- Generation and Characterization of a Novel Angelman Syndrome Mouse Model with a Full Deletion of theCells · 2022Article
- A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research.International journal of molecular sciences · 2021Review
- Prader-Willi syndrome: reflections on seminal studies and future therapies.Open biology · 2020Review
- A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.International journal of molecular sciences · 2020Review
- IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.Advances in neurobiology · 2020Article
- Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome.Neurobiology of learning and memory · 2019Review
- Epigenetic therapy of Prader-Willi syndrome.Translational research : the journal of laboratory and clinical medicine · 2019Review
- Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics.Diseases (Basel, Switzerland) · 2016Article
- Review
- Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome.Clinical and translational science · 2013Article
- Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.PloS one · 2013Article
- Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: A whisper with functional consequences.Rare diseases (Austin, Tex.) · 2013Article
- Spatial and temporal silencing of the human maternal UBE3A gene.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2012Article
- Necdin controls Foxo1 acetylation in hypothalamic arcuate neurons to modulate the thyroid axis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012Article
- Understanding the pathogenesis of Angelman syndrome through animal models.Neural plasticity · 2012Review
- Article
- Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.Trends in neurosciences · 2011Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from the loss of function of imprinted genes in human chromosome 15q11-q13. The central part of mouse chromosome 7 is homologous to human 15q11-q13, with conservation of both gene order and imprinted features. We report here the characterization of a transgene insertion (Epstein-Barr virus Latent Membrane Protein 2A, LMP2A) into mouse chromosome 7C, which has resulted in mouse models for PWS and AS dependent on the sex of the transmitting parent. Epigenotype (allelic expression and DNA methylation) and fluorescence in situ hybridization analyses indicate that the transgene-induced mutation has generated a complete deletion of the PWS/AS-homologous region but has not deleted flanking loci. Because the intact chromosome 7, opposite the deleted homolog, maintains the correct imprint in somatic cells of PWS and AS mice and establishes the correct imprint in male and female germ cells of AS mice, homologous association and replication asynchrony are not part of the imprinting mechanism. This heritable-deletion mouse model will be particularly useful for the identification of the etiological genes and mechanisms, phenotypic basis, and investigation of therapeutic approaches for PWS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.