Article
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Disease models & mechanisms - 1 Jan 2009
Achilli Francesca, Bros-Facer Virginie, Williams Hazel P, Banks Gareth T, AlQatari Mona, Chia Ruth, Tucci Valter, Groves Michael, Nickols Carole D, Seburn Kevin L, Kendall Rachel, Cader Muhammed Z, Talbot Kevin, van Minnen Jan, Burgess Robert W, Brandner Sebastian, Martin Joanne E, Koltzenburg Martin, Greensmith Linda, Nolan Patrick M, Fisher Elizabeth M C
Abstract excerpt
Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutation that leads to a non-conservative substitution within GARS. Heterozygous mice with a C3H genetic background have...
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