Article

MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome

2018-06-28

Abstract excerpt

Mutations in the X-linked gene MECP2 cause the majority of Rett syndrome (RTT) cases. Two differentially spliced isoforms of exons 1 and 2 (MeCP2-e1 and MeCP2-e2) contribute to the diverse functions of MeCP2, but only mutations in exon 1, not exon 2, are observed in RTT. We previously described an isoform-specific MeCP2-e1 deficient male mouse model of a human RTT mutation that lacks MeCP2-e1 while preserving exp...

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Literature Corpus work: 92425e19-cc0b-541b-a7c4-5b823019adb2
DOI: 10.1101/357707

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