PMID:16467389

Citation	Pelka, GJ, Watson, CM, Radziewic, T, Hayward, M, Lahooti, H, Christodoulou, J and Tam, PP (2006) Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain 129:887-98
Abstract	Rett syndrome (RTT) is a debilitating neurological condition associated with mutations in the X-linked MECP2 gene, where apparently normal development is seen prior to the onset of cognitive and motor deterioration at 6-18 months of life. A targeted deletion of the methyl-CpG-binding domain (MBD) coding region and disruption of mRNA splicing was introduced in the mouse, resulting in a complete loss of Mecp2 transcripts and protein. Postnatal comparison of XO and XY mutant Mecp2 allele-containing null mice revealed similar effects on mouse growth and viability, suggesting that phenotypic manifestations are not modulated by the Y-chromosome. Further assessment of Mecp2-null XY mice highlighted cerebellar and hippocampal/amygdala-based learning deficits in addition to reduced motor dexterity and decreased anxiety levels. Brain tissues containing the hippocampal formation of XY Mecp2-null mice also displayed significant changes in genetic activity, which are related to the severity of the mutant phenotype.
Links	PubMed Online version:10.1093/brain/awl022
Keywords	Animals; Anxiety; Conditioning, Classical; Disease Progression; Fear; Gene Expression Regulation; Gene Targeting/methods; Hippocampus/metabolism; Learning; Male; Methyl-CpG-Binding Protein 2/deficiency; Methyl-CpG-Binding Protein 2/genetics; Mice; Mice, Inbred C57BL; Mice, Inbred Strains; Motor Activity; Phenotype; Rett Syndrome/genetics; Rett Syndrome/metabolism; Rett Syndrome/physiopathology; Rett Syndrome/psychology; Y Chromosome/physiology
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Gene product	Qualifier	GO ID	GO term name	Evidence Code	with/from	Aspect	Notes	Status
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