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Jensen, Lars R.; Garrett, Lillian; Hoelter, Sabine M.; Rathkolb, Birgit; Racz, Ildiko; Adler, Thure; Prehn, Cornelia; Hans, Wolfgang; Rozman, Jan; Becker, Lore; Aguilar-Pimentel, Juan Antonio; Puk, Oliver; Moreth, Kristin; Dopatka, Monika; Walther, Diego J.; Bohlen und Halbach, Viola von; Rath, Matthias; Delatycki, Martin; Bert, Bettina; Fink, Heidrun; Bluemlein, Katharina; Ralser, Markus; Dijck, Anke van; Kooy, Frank; Stark, Zornitza; Müller, Sabine; Scherthan, Harry; Gecz, Jozef; Wurst, Wolfgang; Wolf, Eckhard; Zimmer, Andreas; Klingenspor, Martin; Graw, Jochen; Klopstock, Thomas; Busch, Dirk; Adamski, Jerzy; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Bohlen und Halbach, Oliver von; Ropers, Hans-Hilger and Kuss, Andreas W. (2019): A mouse model for intellectual disability caused by mutations in the X-linked 2 '-O-methyltransferase Ftsj1 gene. In: Biochimica et Biophysica Acta-Molecular Basis of Disease, Vol. 1865, No. 9: pp. 2083-2093

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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 findings show that Ftsj1 deficiency in mammals is not phenotypically restricted to the brain but affects various organ systems. Re-examination of ID patients with FTSJ1 mutations from two previously reported families showed that several features observed in the mouse model were recapitulated in some of the patients. Though the clinical spectrum related to Ftsj1 deficiency in mouse and man is variable, we suggest that an increased pain threshold may be more common in patients with FTSJ1 deficiency. Our findings demonstrate novel roles for Ftsj1 in maintaining proper cellular and tissue functions in a mammalian organism.

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