Ho15J: a new hotfoot allele in a hot spot in the gene encoding the delta2 glutamate receptor

Brain Research
Junko MotohashiMichisuke Yuzaki

Abstract

Hotfoot, a recessive mouse mutation characterized by ataxia and jerky movements of the hindlimbs, is caused by various mutations in the gene (Grid2) encoding the delta2 glutamate receptor (GluRdelta2). So far, at least 20 alleles, arising either spontaneously or through the random insertion of transgenes, have been described. Interestingly, most hotfoot mutants have deletions of one or more exons coding for portions of the most amino-terminal domain of GluRdelta2. However, because live mice colonies are no longer available for most hotfoot mutants, the possibility that the loss of a part of an intron might affect the splicing of other exons or the general efficiency of transcription could not be ruled out. Here, we report that a newly identified hotfoot mutant, ho15J, was caused by an intragenic deletion of the Grid2 gene, which indeed resulted in a new type of 52-amino-acid deletion in the most amino-terminal domain of GluRdelta2. Like GluRdelta2 proteins in ho4J mutants, GluRdelta2 proteins in ho15J mice were retained in the soma of Purkinje cells, where they were degraded. Long-term depression, a form of synaptic plasticity underlying information storage in the cerebellum, was abrogated, and ho15J mice showed severe motor di...Continue Reading

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Citations

Jun 4, 2008·Molecular Neurobiology·Sabine M Schmid, Michael Hollmann
Oct 23, 2012·Human Molecular Genetics·Stephen T HansenStefan M Pulst
Oct 19, 2012·PloS One·Eri TakeuchiDai Yanagihara
Aug 5, 2008·The Keio Journal of Medicine·Ryoichi NakagamiMichisuke Yuzaki
Aug 15, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kristof Van SchilElfride De Baere
Apr 22, 2008·Neuroscience·G MandolesiP Strata
Nov 8, 2016·PloS One·Hiroko Kotajima-MurakamiDai Yanagihara
Jan 1, 2014·Cerebellum & Ataxias·Jan Cendelin
Apr 12, 2007·The European Journal of Neuroscience·Kazuhisa KohdaMichisuke Yuzaki
May 16, 2018·Frontiers in Synaptic Neuroscience·Eriola HoxhaFilippo Tempia
Nov 5, 2020·British Journal of Pharmacology·Ananth Prasad BuradaJanesh Kumar

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