title: Hotfoot mouse mutations affect the delta 2 glutamate receptor gene and are allelic to lurcher.
abstract: Hotfoot (ho) is a recessive mouse mutation characterized by cerebellar ataxia associated with relatively mild abnormalities of the cerebellum. It has been previously mapped to Chromosome 6, and at least eight independent alleles have been reported. Here we show that the hotfoot phenotype is associated with mutations in the glutamate receptor ionotropic delta2 gene (Grid2). We have identified a 510-bp deletion in the Grid2 coding sequence in the ho4J allele, resulting in a deletion of 170 amino acids of the extracellular domain of the receptor. Analysis of a second allele, hoTgN37INRA, revealed a 4-kb deletion in the Grid2 transcript. The GRID2 protein in these hotfoot mutants probably has a reduced (or null) activity since the phenotype of hotfoot bears similarities with the previously described phenotype of Grid2 knockout mice. The exceptionally high number of independent alleles at the ho locus is an invaluable tool for investigating the function of the glutamate receptor ionotropic delta2 protein, which so far remains largely unknown.
authors.affiliation: Unité de Génétique des Mammifères, Institut Pasteur, 25, rue du Dr. Roux, Paris Cedex 15, 75724, France.
authors.forename: A
authors.initials: A
authors.lastname: Lalouette
authors.forename: J L
authors.initials: JL
authors.lastname: Guénet
authors.forename: S
authors.initials: S
authors.lastname: Vriz
mesh_terms: D000483:Alleles; D000818:Animals; D002524:Cerebellar Ataxia / Q000235:genetics; D017353:Gene Deletion; D006720:Homozygote; D051379:Mice; D008811:Mice, Inbred DBA; D008818:Mice, Neurologic Mutants; D008822:Mice, Transgenic; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012313:RNA / Q000737:chemistry / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D012194:RNA-Directed DNA Polymerase; D017470:Receptors, Glutamate / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D012333:RNA, Messenger; D017470:Receptors, Glutamate; C107913:glutamate receptor delta 2; D012313:RNA; D012194:RNA-Directed DNA Polymerase