caa a22 4500 397575637 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.563 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.563 Construction of a Mouse Model of Charcot-Marie-Tooth Disease Type 1A by Pronuclear Injection of Human YAC DNA [Elektronische Daten] [C. Huxley, E. Passage, A. Manson, G. Putzu, D. Figarella-Branger, J. F. Pellissier, M. Fontés] Construction of animal models of human inherited diseases is particularly important for testing gene therapy approaches. Towards this end, we constructed a mouse model for Charcot-Marie-Tooth disease type 1A by pronuclear injection of a YAC containing the human PMP22 gene. In one transgenic line, the YAC DNA is integrated in about eight copies and the PMP22 gene is strongly expressed to give a peripheral neuropathy closely resembling the human pathology. The disorder is dominant, causes progressive weakness of the hind legs, and there is severe demyelination in the peripheral nervous system including the presence of onion bulb formations. This approach will be valuable for pathologies produced by over-expression of a gene including trisomy and amplification in cancer. Such models will be particularly useful for testing gene therapy approaches if the transgene is human. © 1996 Oxford University Press Huxley C. Imperial College School of Medicine at St Mary's, London W2 IPG, UK aut Passage E. INSERM U406, Équipe N°3: Génome Humain et Développment, Faculté de Médecine de la Timone, BP 24, 13385 Marseille Cedex 5, France aut Manson A. Imperial College School of Medicine at St Mary's, London W2 IPG, UK aut Putzu G. INSERM U406, Équipe N°3: Génome Humain et Développment, Faculté de Médecine de la Timone, BP 24, 13385 Marseille Cedex 5, France aut Figarella-Branger D. Laboratoire de Pathologie Neuro-musculaire, Équipe DGRT N°866, Faculté de Médecine de la Timone, 13351 Marseille Cedex 5, France aut Pellissier J. F. Laboratoire de Pathologie Neuro-musculaire, Équipe DGRT N°866, Faculté de Médecine de la Timone, 13351 Marseille Cedex 5, France aut Fontés M. INSERM U406, Équipe N°3: Génome Humain et Développment, Faculté de Médecine de la Timone, BP 24, 13385 Marseille Cedex 5, France aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 563-569 0964-6906 5:5<563 1996 5 hmg https://doi.org/10.1093/hmg/5.5.563 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.563 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Huxley C. Imperial College School of Medicine at St Mary's, London W2 IPG, UK aut NATIONALLICENCE 700 1- Passage E. INSERM U406, Équipe N°3: Génome Humain et Développment, Faculté de Médecine de la Timone, BP 24, 13385 Marseille Cedex 5, France aut NATIONALLICENCE 700 1- Manson A. Imperial College School of Medicine at St Mary's, London W2 IPG, UK aut NATIONALLICENCE 700 1- Putzu G. INSERM U406, Équipe N°3: Génome Humain et Développment, Faculté de Médecine de la Timone, BP 24, 13385 Marseille Cedex 5, France aut NATIONALLICENCE 700 1- Figarella-Branger D. Laboratoire de Pathologie Neuro-musculaire, Équipe DGRT N°866, Faculté de Médecine de la Timone, 13351 Marseille Cedex 5, France aut NATIONALLICENCE 700 1- Pellissier J. F. Laboratoire de Pathologie Neuro-musculaire, Équipe DGRT N°866, Faculté de Médecine de la Timone, 13351 Marseille Cedex 5, France aut NATIONALLICENCE 700 1- Fontés M. INSERM U406, Équipe N°3: Génome Humain et Développment, Faculté de Médecine de la Timone, BP 24, 13385 Marseille Cedex 5, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 563-569 0964-6906 5:5<563 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford