A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

  title={A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome},
  author={J. Guy and B. Hendrich and M. Holmes and J. Martin and A. Bird},
  journal={Nature Genetics},
  • J. Guy, B. Hendrich, +2 authors A. Bird
  • Published 2001
  • Biology, Medicine
  • Nature Genetics
  • Rett syndrome (RTT) is an inherited neurodevelopmental disorder of females that occurs once in 10,000–15,000 births. [...] Key Result Both Mecp2-null mice and mice in which Mecp2 was deleted in brain showed severe neurological symptoms at approximately six weeks of age. Compensation for absence of MeCP2 in other tissues by MeCP1 (refs. 19,20) was not apparent in genetic or biochemical tests. After several months, heterozygous female mice also showed behavioral symptoms. The overlapping delay before symptom…Expand Abstract
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