To investigate the effect of acetylcholine receptor (AChR) mutations on neuromuscular transmission and to develop a model for the human neuromuscular disease, the slow-channel syndrome, we generated transgenic mice with abnormal AChRs using a 6 subunit with a mutation in the ion channel domain. In t
Transgenic mouse model for the fragile X syndrome
β Scribed by Kooy, R. Frank; D'Hooge, Rudi; Reyniers, Edwin; Bakker, Cathy E.; Nagels, Guy; De Boulle, Kristel; Storm, Katrien; Clincke, Gilbert; De Deyn, Peter P.; Oostra, Ben A.; Willems, Patrick J.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 513 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
Transgenic fragile X knockout mice have been constructed to provide an animal model to study the physiologic function of the fragile X gene (FMR1) and to gain more insight into the clinical phenotype caused by the absence of the fragile X protein. Initial experiments suggested that the knockout mice show macroorchidism and cognitive and behavioral deficits, abnormalities comparable to those of human fragile X patients. In the present study, we have extended our experiments, and conclude that the Fmrl knockout mouse is a reliable transgenic model to study the fragile X syndrome.
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