crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).

@article{Conti2006crv4AM,
  title={crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).},
  author={Valerio Conti and Asadollah Aghaie and Michele Cilli and Natalia Martin and Gianluca Caridi and Luca Musante and Giovanni Candiano and Maura Castagna and Alfonso Fair{\'e}n and Roberto Ravazzolo and J. -L. Gu{\'e}net and Aldamaria Puliti},
  journal={International journal of molecular medicine},
  year={2006},
  volume={18 4},
  pages={593-600}
}
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 proximal region of chromosome 10, at the location of the Grm1 gene. Genetic… CONTINUE READING

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