Journal 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.
- Abstract:
-
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 loss of grip strength, decreased motor flexibility and disruption of fine motor co...
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- Publication status:
- Published
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- Publisher copy:
- 10.1242/dmm.002527
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Authors
Bibliographic Details
- Journal:
- Disease models and mechanisms
- Volume:
- 2
- Issue:
- 7-8
- Pages:
- 359-373
- Publication date:
- 2009-01-01
- DOI:
- EISSN:
-
1754-8411
- ISSN:
-
1754-8403
- Source identifiers:
-
110107
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:110107
- UUID:
-
uuid:f3a825ce-8272-484e-b327-ee700e38bbf9
- Local pid:
- pubs:110107
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2009
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