Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X

@article{Bissonnette2014RespiratoryPA,
  title={Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X},
  author={John M. Bissonnette and Laura R. Schaevitz and Sharon J. Knopp and Zhongjun Zhou},
  journal={Neuroscience},
  year={2014},
  volume={267},
  pages={166-176}
}
Respiratory disturbances are a primary phenotype of the neurological disorder, Rett syndrome (RTT), caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Mouse models generated with null mutations in Mecp2 mimic respiratory abnormalities in RTT girls. Large deletions, however, are seen in only ∼10% of affected human individuals. Here we characterized respiration in heterozygous females from two mouse models that genetically mimic common RTT point mutations, a… CONTINUE READING
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