References
Query Results -- Details
MGI Accession ID: MGI:80155
J Number: J:32665
Other Accession IDs:
Title: Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation [see comments] [published erratum appears in Science 1995 Jul 14;269(5221):149]
Authors: Gurney ME; Pu H; Chiu AY; Dal Canto MC; Polchow CY; Alexander DD; Caliendo J; Hentati A; Kwon YW; Deng HX; Chen W; Zhai P; Sufit RL; Siddique T
Journal: Science
Volume: 264
Issue: 5166
Date: 1994 Jun 17
Year: 1994
Pages: 1772-5
Review Status: Peer Reviewed
Abstract:
Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93--a change that has little effect on enzyme activity--caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.
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