ABSTRACT
Spontaneous mutations come in all shapes and sizes, ranging from single nucleotide substitutions, small intragenic deletions, larger deletions which remove multiple genes, DNA insertions, larger chromosomal rearrangements such as inversions, translocations, or more complex events. Indeed, often an intercross is required since mice that are homozygous for many of the classical neurological mutations are not capable of mating. A good set of flanking markers can serve as surrogates for many further genetic manipulations, including crossing the mutation to a given strain background Increasingly, the “game” in trait-locus identification, whether spontaneous or chemically induced or polygenic mutations, becomes one of candidate gene-testing. Spontaneous mouse mutations have certainly played a critical historical role in the appreciation of how genetic defects can influence the development, integrity, and normal function of the mammalian nervous system and associated disorders in animal models of human disease.
