Homozygotes can be identified by 2 weeks of age by smaller body size, ataxia, and tremor. They have progressive paralysis and die by 21 to 24 days of age. Schroeder et al. reported that no demyelination was evident in nerve cross sections, and conduction velocities were not different from age matched littermate controls at postnatal day 16. Male and female homozygous mutants display similar disease onset and progression. Molecular characterization showed this to be a C to A transversion causing an arginine to serine substitution in amino acid 914, which is in the ion pore region.

This strain has been discontinued. Please search the <a href="https://www.jax.org/mouse-search">JAX Mice database</a> for other Scn8a strains which may be suitable for your studies. This Scn8a spontaneous mutant has a single amino acid substitution, R914S, which causes a phenotype as severe as that caused by null alleles.

Please contact <a target="_blank" href="https://www.jax.org/jax-mice-and-services/customer-support/technical-support/contact-technical-support-form">Technical Support</a> for more information.