Mice heterozygous for this ENU-induced mutation (Lpin120884Nrcam20884), are viable and fertile, although the donating investigator reports that homozygous males do not breed and homozygous females fail to care of their pups. These double mutant mice possess a missense mutation in the phosphatidate phosphatase gene, Lpin1, and a nonsense mutation in the neural cell adhesion molecule gene, Nrcam. The two single mutations appear to act synergistically to produce the 20884 phenotype. The ENU20884 mutants exhibit demyelination and aberrant myelin structures, as well as severe electrophysiological abnormalities seen by a reduction in sciatic nerve conduction velocity and compound muscle action potentials. These mice develop a floppy gait leading to hindlimb paralysis, inability of the hindpaws to grip, visibly wasted hindquarter muscles, and the clenching of the hindlimbs to the body when suspended by the tail by 6 or 7 weeks of age. By 1 year of age, these mutants regain the ability to both grip structures and walk, although their gait remains floppy. These mutant mice may be useful in studying neurodegeneration, myelin defects, muscle atrophy, and paralysis.

Mice heterozygous for this ENU-induced (Lpin120884Nrcam20884) mutation possess a missense mutation in the phosphatidate phosphatase gene Lpin1 and a nonsense mutation in the neural cell adhesion molecule gene Nrcam. These mutant mice may be useful in studying neurodegeneration, myelin defects, muscle atrophy, and paralysis.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.