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

• Published in: Biochimica et biophysica acta. Molecular basis of disease Vol. 1865; no. 9; pp. 2083 - 2093
• Main Authors: Jensen, Lars R., Garrett, Lillian, Hölter, Sabine M., Rathkolb, Birgit, Rácz, Ildikó, Adler, Thure, Prehn, Cornelia, Hans, Wolfgang, Rozman, Jan, Becker, Lore, Aguilar-Pimentel, Juan Antonio, Puk, Oliver, Moreth, Kristin, Dopatka, Monika, Walther, Diego J., von Bohlen und Halbach, Viola, Rath, Matthias, Delatycki, Martin, Bert, Bettina, Fink, Heidrun, Blümlein, Katharina, Ralser, Markus, Van Dijck, Anke, 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, Valérie, de Angelis, Martin Hrabě, von Bohlen und Halbach, Oliver, Ropers, Hans-Hilger, Kuss, Andreas W.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.2019
• Subjects: Animals; Behavior, Animal; Cognition Disorders - etiology; Cognition Disorders - pathology; Disease Models, Animal; Family; Female; Ftsj1; Intellectual disability; Intellectual Disability - etiology; Intellectual Disability - pathology; Male; Mental Retardation, X-Linked - genetics; Methyltransferases - genetics; Methyltransferases - metabolism; Methyltransferases - physiology; Mice; Mice, Inbred C57BL; Mice, Knockout; Mouse model; Mutation; Nociceptive Pain - etiology; Nociceptive Pain - pathology; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; tRNA methyltransferase; X-linked; X-linked; Mouse model; Intellectual disability; Ftsj1; tRNA methyltransferase

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 def...