Journal article
Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations
ML Howard, SJ Palmer, KM Taylor, GJ Arthurson, MW Spitzer, X Du, TYC Pang, T Renoir, EC Hardeman, AJ Hannan
Neurobiology of Disease | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2012
Abstract
Insufficiency of the transcriptional regulator GTF2IRD1 has become a strong potential explanation for some of the major characteristic features of the neurodevelopmental disorder Williams-Beuren syndrome (WBS). Genotype/phenotype correlations in humans indicate that the hemizygous loss of the GTF2IRD1 gene and an adjacent paralogue, GTF2I, play crucial roles in the neurocognitive and craniofacial aspects of the disease. In order to explore this genetic relationship in greater detail, we have generated a targeted Gtf2ird1 mutation in mice that blocks normal GTF2IRD1 protein production. Detailed analyses of homozygous null Gtf2ird1 mice have revealed a series of phenotypes that share some intr..
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Funding Acknowledgements
This research was supported by NHMRC Project Grant funding (ECH and AJH) and an ARC Future Fellowship (AJH). The Avisoft recording and analysis equipment was purchased with funding from the Scobie & Claire McKinnon Trust. The c-fos antibody was a kind gift from Professor Michael McKinley. The authors would like to thank Neil Cook for performing initial audible recordings and Robert Gration and Anne Wiltshire for their assistance with initial ultrasound recordings. We also thank Drs Mark Murphy and Julian Heng for useful feedback on a previous version of the manuscript. This work was also supported by the Victorian Government through the Operational Infrastructure Scheme.