Mice become paralyzed in one or more limbs and die by 5-6 months of age.
Paralysis is due to loss of motor neurons from the spinal cord.
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. 1994. Zn superoxide dismutase mutation. Jackson Laboratory personnel are in the process of working with Dr. Gurney to determine the cause of the change in phenotype. The presence of the glycine to alanine mutation at position 93 of the human SOD1 transgene was confirmed by Dr. Robert Brown, Associate Professor of Neurology at Harvard Medical School. Both human SOD1 protein expression in red blood cells and Southern analysis indicate a reduced transgene copy number in mice from the JAX colony compared to the original Gurney line.