Article
A mouse model for Prader-Willi syndrome imprinting-centre mutations.
Nature genetics - 1 May 1998
Yang T, Adamson T E, Resnick J L, Leff S, Wevrick R, Francke U, Jenkins N A, Copeland N G, Brannan C I
Abstract excerpt
Imprinting in the 15q11-q13 region involves an 'imprinting centre' (IC), mapping in part to the promoter and first exon of SNRPN. Deletion of this IC abolishes local paternally derived gene expression and results in Prader-Willi syndrome (PWS). We have created two deletion mutations in mice to understand PWS and the mechanism of this IC. Mice harbouring an intragenic deletion in Snrpn are phenotypically normal,...
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