Journal article

A mouse model for intellectual disability caused by mutations in the X-linked 2 '-O-methyltransferase Ftsj1 gene

Lars R Jensen, Lillian Garrett, Sabine M Hoelter, Birgit Rathkolb, Ildiko Racz, Thure Adler, Cornelia Prehn, Wolfgang Hans, Jan Rozman, Lore Becker, Juan Antonio Aguilar-Pimentel, Oliver Puk, Kristin Moreth, Monika Dopatka, Diego J Walther, Viola von Bohlen Und Halbach, Matthias Rath, Martin Delatycki, Bettina Bert, Heidrun Fink Show all

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | ELSEVIER | Published : 2019

Abstract

Mutations in the X chromosomal tRNA 2'‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the pathological mechanism involved in the aetiology of FTSJ1 deficiency-related cognitive impairment, we generated and characterized an Ftsj1 deficient mouse line based on the gene trapped stem cell line RRD143. Apart from an impaired learning capacity these mice presented with several statistically significantly altered features related to behaviour, pain sensing, bone and energy metabolism, the immune and the hormone system as well as gene expression. These ..

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Grants

Awarded by German Federal Ministry of Education and Research


Awarded by Integrated Network IntegraMent (Integrated Understanding of Causes and Mechanisms in Mental Disorders) under e:Med Programme


Funding Acknowledgements

This work was supported by the German Federal Ministry of Education and Research [Infrafrontier grant 01KX1012 to MHdA] and through the Integrated Network IntegraMent (Integrated Understanding of Causes and Mechanisms in Mental Disorders), under the auspices of the e:Med Programme [grant 01ZX1314H to W. Wurst], by the German Science Foundation Collaborative Research Centre (CRC) 870 and by the Helmholtz Portfolio Theme 'Supercomputing and Modelling for the Human Brain' (SMHB).