Article
An animal model for Charcot-Marie-Tooth disease type 4B1.
Human molecular genetics - 1 Dec 2005
Bonneick Sonja, Boentert Matthias, Berger Philipp, Atanasoski Suzana, Mantei Ned, Wessig Carsten, Toyka Klaus V, Young Peter, Suter Ueli
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) comprises a family of clinically and genetically very heterogeneous hereditary peripheral neuropathies and is one of the most common inherited neurological disorders. We have generated a mouse model for CMT type 4B1 using embryonic stem cell technology. To this end, we introduced a stop codon into the Mtmr2 locus within exon 9, at the position encoding amino acid 276 of the MTMR2...
Topics
- Alleles
- Animals
- Charcot-Marie-Tooth Disease
- Codon, Nonsense
- Disease Models, Animal
- Electrophysiology
- Homozygote
- Humans
- Immunohistochemistry
- Mice
- Mice, Neurologic Mutants