Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MECP2 contributors: mct/pgu/shn - updated : 01-02-2017
HGNC name methyl CpG binding protein 2 (Rett syndrome)
HGNC id 6990
ANIMAL & CELL MODELS
  • overexpression of MeCP2 in the mouse heart causes embryonic lethality with cardiac septum hypertrophy and dysregulated expression of MeCP2 in skeletal tissue produces severe malformations
  • mice bearing a hypomorphic mutation in Mecp2 display altered behavioral responses to acute and repeated AMPH treatment and changes in both the development and plasticity of striatal synapses
  • in globally MeCP2-deficient mice, re-expression of Mecp2 preferentially in astrocytes significantly improved locomotion and anxiety levels, restored respiratory abnormalities to a normal pattern, and greatly prolonged lifespan compared to globally null mice
  • neuron-specific deletion of MeCP2 recapitulates the RTT symptoms of the whole-body KO mouse, implicating an essential role for MeCP2 in neurons
  • decreased dopamine transmission due to heterogeneous Mecp2 expression contributes to the parkinsonian features of RTT in Mecp2(+/-) mice
  • mutations occurring in Rett patients are defective in the chromatin architecture function of MeCP2
  • cholesterol homeostasis is disrupted in Mecp2 mutant mice
  • loss of MECP2 causes mislocalization of the ATRX in the hippocampus and cortex of symptomatic KO mice