- About this Journal
- Abstracting and Indexing
- Aims and Scope
- Annual Issues
- Article Processing Charges
- Articles in Press
- Author Guidelines
- Bibliographic Information
- Citations to this Journal
- Contact Information
- Editorial Board
- Editorial Workflow
- Free eTOC Alerts
- Publication Ethics
- Submit a Manuscript
- Subscription Information
- Table of Contents
The Scientific World Journal
Volume 2012 (2012), Article ID 214078, 6 pages
Mouse Models of Aneuploidy
1Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
2Division of Immune Cell Biology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
Received 4 February 2011; Accepted 16 November 2011
Academic Editor: Adele Murrell
Copyright © 2012 Olivia Sheppard et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- T. Hassold and P. Hunt, “To err (meiotically) is human: the genesis of human aneuploidy,” Nature Reviews Genetics, vol. 2, no. 4, pp. 280–291, 2001.
- M. Dierssen, Y. Herault, and X. Estivill, “Aneuploidy: from a physiological mechanism of variance to Down syndrome,” Physiological Reviews, vol. 89, no. 3, pp. 887–920, 2009.
- E. M. Morrow, “Genomic copy number variation in disorders of cognitive development,” Journal of the American Academy of Child and Adolescent Psychiatry, vol. 49, no. 11, pp. 1091–1104, 2010.
- P. Stankiewicz and J. R. Lupski, “Structural variation in the human genome and its role in disease,” Annual Review of Medicine, vol. 61, pp. 437–455, 2010.
- L. G. Shaffer, D. H. Ledbetter, and J. R. Lupski, “Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance,” in The Metabolic and Molecular Bases of Inherited Diseases, C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Vogelstein, and B. Childs, Eds., pp. 1291–1326, McGraw–Hill, New York, NY, USA, 2001.
- F. K. Wiseman, K. A. Alford, V. L. J. Tybulewicz, and E. M. C. Fisher, “Down syndrome—recent progress and future prospects,” Human Molecular Genetics, vol. 18, no. 1, pp. R75–R83, 2009.
- G. M. Savva, K. Walker, and J. K. Morris, “The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome),” Prenatal Diagnosis, vol. 30, no. 1, pp. 57–64, 2010.
- J. C. Giltay and M. C. Maiburg, “Klinefelter syndrome: clinical and molecular aspects,” Expert Review of Molecular Diagnostics, vol. 10, no. 6, pp. 765–776, 2010.
- M. L. Davenport, “Approach to the patient with Turner syndrome,” Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 4, pp. 1487–1495, 2010.
- D. Nguyen and X. Tian, “The expanding role of mouse genetics for understanding human biology and disease,” Disease Models and Mechanisms, vol. 1, no. 1, pp. 56–66, 2008.
- V. L. J. Tybulewicz and E. M. C. Fisher, “New techniques to understand chromosome dosage: mouse models of aneuploidy,” Human Molecular Genetics, vol. 15, no. 2, pp. R103–R109, 2006.
- R. Ramírez-Solis, P. Liu, and A. Bradley, “Chromosome engineering in mice,” Nature, vol. 378, no. 6558, pp. 720–724, 1995.
- A. O'Doherty, S. Ruf, C. Mulligan et al., “Genetics: an aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes,” Science, vol. 309, no. 5743, pp. 2033–2037, 2005.
- K. A. Alford, A. Slender, L. Vanes et al., “Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome,” Blood, vol. 115, no. 14, pp. 2928–2937, 2010.
- L. Dunlevy, M. Bennett, A. Slender et al., “Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse,” Cardiovascular Research, vol. 88, no. 2, pp. 287–295, 2010.
- M. Galante, H. Jani, L. Vanes et al., “Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome,” Human Molecular Genetics, vol. 18, no. 8, pp. 1449–1463, 2009.
- E. Morice, L. C. Andreae, S. F. Cooke et al., “Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tcl mouse model of down syndrome,” Learning and Memory, vol. 15, no. 7, pp. 492–500, 2008.
- L. E. Reynolds, A. R. Watson, M. Baker et al., “Tumour angiogenesis is reduced in the Tc1 mouse model of Downs syndrome,” Nature, vol. 465, no. 7299, pp. 813–817, 2010.
- R. H. Reeves, N. G. Irving, T. H. Moran et al., “A mouse model for Down syndrome exhibits learning and behaviour deficits,” Nature Genetics, vol. 11, no. 2, pp. 177–184, 1995.
- A. Salehi, J. D. Delcroix, P. V. Belichenko et al., “Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration,” Neuron, vol. 51, no. 1, pp. 29–42, 2006.
- A. Salehi, M. Faizi, D. Colas et al., “Restoration of norepinephrine-modulated contextual memory in a mouse model of Down syndrome,” Science translational medicine, vol. 1, no. 7, pp. 7–ra17, 2009.
- J. D. Cooper, A. Salehi, J. D. Delcroix et al., “Failed retrograde transport of NGF in a mouse model of Down's syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion,” Proceedings of the National Academy of Sciences of the United States of America, vol. 98, no. 18, pp. 10439–10444, 2001.
- H. Sago, E. J. Carlson, D. J. Smith et al., “Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities,” Proceedings of the National Academy of Sciences of the United States of America, vol. 95, no. 11, pp. 6256–6261, 1998.
- T. Yu, C. Liu, P. Belichenko et al., “Effects of individual segmental trisomies of human chromosome 21 syntenic regions on hippocampal long-term potentiation and cognitive behaviors in mice,” Brain Research, vol. 1366, pp. 162–171, 2010.
- T. Yu, Z. Li, Z. Jia et al., “A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions,” Human Molecular Genetics, vol. 19, no. 14, Article ID ddq179, pp. 2780–2791, 2010.
- V. Besson, V. Brault, A. Duchon et al., “Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses,” Human Molecular Genetics, vol. 16, no. 17, pp. 2040–2052, 2007.
- A. Duchon, S. Pothion, V. Brault et al., “The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome,” Behavioural Brain Research, vol. 217, no. 2, pp. 271–281, 2011.
- L. E. Olson, J. T. Richtsmeier, J. Leszl, and R. H. Reeves, “A chromosome 21 critical region does not cause specific down syndrome phenotypes,” Science, vol. 306, no. 5696, pp. 687–690, 2004.
- T. Yu, S. J. Clapcote, Z. Li et al., “Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice,” Mammalian Genome, vol. 21, no. 5-6, pp. 258–267, 2010.
- T. E. Sussan, A. Yang, F. Li, M. C. Ostrowski, and R. H. Reeves, “Trisomy represses ApcMin-mediated tumours in mouse models of Down's syndrome,” Nature, vol. 451, no. 7174, pp. 73–75, 2008.
- A. C. S. Costa, J. J. Scott-McKean, and M. R. Stasko, “Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test,” Neuropsychopharmacology, vol. 33, no. 7, pp. 1624–1632, 2008.
- F. Fernandez, W. Morishita, E. Zuniga et al., “Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome,” Nature Neuroscience, vol. 10, no. 4, pp. 411–413, 2007.
- P. M. Y. Lynn and W. Davies, “The 39,XO mouse as a model for the neurobiology of Turner syndrome and sex-biased neuropsychiatric disorders,” Behavioural Brain Research, vol. 179, no. 2, pp. 173–182, 2007.
- J. Wistuba, “Animal models for Klinefelter's syndrome and their relevance for the clinic,” Molecular Human Reproduction, vol. 16, no. 6, Article ID gaq024, pp. 375–385, 2010.
- O. Ermakova, L. Piszczek, L. Luciani et al., “Sensitized phenotypic screening identifies gene dosage sensitive region on chromosome 11 that predisposes to disease in mice,” EMBO Molecular Medicine, vol. 3, no. 1, pp. 50–66, 2011.
- B. M. Cattanach, J. A. Barr, C. V. Beechey, J. Martin, J. Noebels, and J. Jones, “A candidate model for Angelman syndrome in the mouse,” Mammalian Genome, vol. 8, no. 7, pp. 472–478, 1997.
- B. M. Cattanach, J. A. Barr, E. P. Evans et al., “A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression,” Nature Genetics, vol. 2, no. 4, pp. 270–274, 1992.
- Y. H. Jiang, Y. Pan, L. Zhu et al., “Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3,” PLoS One, vol. 5, no. 8, Article ID e12278, 2010.
- T. M. DeLorey, A. Handforth, G. E. Homanics, and R. W. Olsen, “Mice lacking the gabrb3 gene have epilepsy and behavioral characteristics of Angelman syndrome,” Brain Research, vol. 809, p. A29, 1998.
- T. M. DeLorey, A. Handforth, A. Asatourian, et al., “Mice lacking the GABA(A) receptor beta(3) subunit gene have some of the characteristics of Angelmann syndrome,” Journal of Neurochemistry, vol. 69, p. S236, 1997.
- Y. H. Jiang, D. Armstrong, U. Albrecht et al., “Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation,” Neuron, vol. 21, no. 4, pp. 799–811, 1998.
- E. H. Cook, V. Lindgren, B. L. Leventhal et al., “Autism or atypical autism in maternally but not paternally derived proximal 15q duplication,” American Journal of Human Genetics, vol. 60, no. 4, pp. 928–934, 1997.
- T. Takumi, “A humanoid mouse model for autism by a chromosome engineering,” Neuroscience Research, vol. 65, p. S27, 2009.
- E. A. Lindsay, A. Botta, V. Jurecic et al., “Congenital heart disease in mice deficient for the DiGeorge syndrome region,” Nature, vol. 401, no. 6751, pp. 379–383, 1999.
- W. L. Kimber, P. Hsieh, S. Hirotsune et al., “Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse,” Human Molecular Genetics, vol. 8, no. 12, pp. 2229–2237, 1999.
- A. Puech, B. Saint-Jore, S. Merscher et al., “Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region,” Proceedings of the National Academy of Sciences of the United States of America, vol. 97, no. 18, pp. 10090–10095, 2000.
- T. Sigurdsson, K. L. Stark, M. Karayiorgou, J. A. Gogos, and J. A. Gordon, “Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia,” Nature, vol. 464, no. 7289, pp. 763–767, 2010.
- M. Karayiorgou, T. J. Simon, and J. A. Gogos, “22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia,” Nature Reviews Neuroscience, vol. 11, no. 6, pp. 402–416, 2010.
- D. W. Meechan, E. S. Tucker, T. M. Maynard, and A. S. LaMantia, “Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome,” Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 38, pp. 16434–16439, 2009.
- K. Walz, R. Paylor, J. Yan, W. Bi, and J. R. Lupski, “Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2),” Journal of Clinical Investigation, vol. 116, no. 11, pp. 3035–3041, 2006.
- G. Ricard, J. Molina, J. Chrast et al., “Phenotypic consequences of copy number variation: insights from smith-magenis and Potocki-Lupski syndrome mouse models,” PLoS Biology, vol. 8, no. 11, Article ID e1000543, 2010.
- J. Yan, W. Bi, and J. R. Lupski, “Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike,” American Journal of Human Genetics, vol. 80, no. 3, pp. 518–525, 2007.
- H. H. Li, M. Roy, U. Kuscuoglu et al., “Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice,” EMBO Molecular Medicine, vol. 1, no. 1, pp. 50–65, 2009.
- S. Girirajan and E. E. Eichler, “Phenotypic variability and genetic susceptibility to genomic disorders,” Human Molecular Genetics, vol. 19, no. R2, pp. R176–187, 2010.
- A. C. Need and D. B. Goldstein, “Whole genome association studies in complex diseases: where do we stand?” Dialogues in Clinical Neuroscience, vol. 12, no. 1, pp. 37–46, 2010.
- C. Lee and S. W. Scherer, “The clinical context of copy number variation in the human genome,” Expert Reviews in Molecular Medicine, vol. 12, p. e8, 2010.
- J. Nakatani, K. Tamada, F. Hatanaka et al., “Abnormal behavior in a chromosome- engineered mouse model for human 15q11-13 duplication seen in Autism,” Cell, vol. 137, no. 7, pp. 1235–1246, 2009.
- K. Walz, S. Caratini-Rivera, W. Bi et al., “Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance,” Molecular and Cellular Biology, vol. 23, no. 10, pp. 3646–3655, 2003.
- J. Yan, V. W. Keener, W. Bi et al., “Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome,” Human Molecular Genetics, vol. 13, no. 21, pp. 2613–2624, 2004.
- E. A. Lindsay and A. Baldini, “Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region,” Human Molecular Genetics, vol. 10, no. 9, pp. 997–1002, 2001.