Article
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).
International journal of molecular medicine - 1 Oct 2006
Conti Valerio, Aghaie Asadollah, Cilli Michele, Martin Natalia, Caridi Gianluca, Musante Luca, Candiano Giovanni, Castagna Maura, Fairen Alfonso, Ravazzolo Roberto, Guenet Jean-Louis, Puliti Aldamaria
Abstract excerpt
We describe a novel spontaneous autosomal recessive mutation, cervelet-4 (crv4), which arose in a BALB/c strain. Mice homozygous for the mutation exhibit principally a reduced body size, a congenital neurological phenotype characterized by ataxic gait and intention tremor, with no gross anomalies observed in brain or cerebellum, and skeletal anomalies. Using linkage analysis, we mapped the crv4 locus to the...
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