The NIMH transgenic core facility´s mission is to discover the role of specific genes in the development and function of the nervous system. In some neurological diseases the genetic basis of pathology is know and can be modeled in mice. In collaboration with NIH neuroscience investigators the facility produces transgenic research animals and modified embryonic stem cells.
- In ES cells a gene can be modified to assess its place in normal cell function. The biology of these cells can be studied in culture or mice can be generated from these ES cells to determine the effect of the gene in an animal. Often a complete deletion is lethal, so more subtle modification of the gene can be introduced into ES cells and then mice.
- Mice can be produced that express the transgene in a temporal or spatially aberrant pattern. By expressing a gene either earlier or later than normal its role can be explored. If the gene is "tuned on" in cells that normally do not express the fate of those cells may be changed.
- In other mice a marker gene (a fluorescent protein for instance) is expressed in discrete populations of cells so that those cells can be tracked during development. Some transgenic markers reflect the activation state of a set of neurons.
- Genetic alterations that cause disease can be introduced into mice in order to create a model organism. Efforts to counter the effects of the disease can be tested in mice, and the effects of therapy can be evaluated.
The facility offers many service that help NIH scientists generate cells and mice that advance neuroscience research. Transferring embryos, cryopreserving significant mouse lines, assisted fertilization, ES cell line production and in vitro differentiation are other techniques that are available through the facility.