Newswise — January 2009 marks 50 years of federal funding for the world's largest collection of mice with naturally occurring, or spontaneous, mutations. These mice have helped researchers around the world study some of humanity's toughest diseases.
The Jackson Laboratory in July received a $5 million grant from the National Center for Research Resources, one of the National Institutes of Health, to maintain this unparalleled repository of mice with spontaneous mutations. The first federal funding for Jackson's Mouse Mutant Resource was a $51,000 grant from the National Science Foundation, awarded in January 1959.
Mice and humans share the vast majority of their genes, and mice get the same diseases as humans, for the same genetic reasons. Since the 1980s, with the advent of gene transfer technology, it has been possible to insert or delete genes to create a new mouse model for a given disease, based on what is known about the genetics of that disease. However, given the complexity of diseases like cancer, diabetes and heart disease, which may involve the interaction of dozens or even hundreds of genes, many scientists believe that diseases are best modeled when they occur naturally, as they do in the human population.
"Spontaneous mutations provide gene discovery in its most basic form," says Dr. Leah Rae Donahue, Jackson's director of genetic resource sciences. "In mice with a spontaneous mutation, you notice the clinical 'symptoms' of a disease first, and when you investigate the genetics you may discover a gene that no one suspected was involved in the disease."
The Jackson Laboratory is recognized throughout the scientific world as the institution that made the laboratory mouse the premier model for the study of basic biology and genetic diseases. By carefully inbreeding mice so that each colony is, for all intents, a large family of genetically identical "twins", JAX® Mice are consistent, standardized research models. As part of Jackson's program to maintain this genetic consistency, animal care technicians are trained to identify mouse offspring that look or act differently from their parents -- the first sign that a spontaneous mutation may have occurred.
And because Jackson's mouse colonies are the largest and most diverse in the world, they also naturally produce the largest assortment of mice potentially harboring a wide variety of spontaneous mutations.
One very obese mouse, detected in the 1950s, has led to an excellent model for type 2 diabetes that is still widely requested by pharmaceutical and biotech companies. Among many more recent examples, Jackson Professor and Howard Hughes Medical Institute Investigator Susan Ackerman has made important progress in understanding processes associated with neurodegeneration in a mouse model also arising through spontaneous mutation. The "harlequin" mouse displays progressive movement problems, or ataxia, as it ages, due to impaired cerebellar function.
The National Center for Research Resources started funding the Mouse Mutant Resource in the 1960s, overlapping with National Science Foundation support until the end of the century, when the NSF stopped funding biomedical research.
The Jackson Laboratory is an independent, nonprofit biomedical research institution and National Cancer Institute-designated Cancer Center with more than 1,400 employees in Bar Harbor, Maine, and Sacramento, California. Its mission is to discover the genetic basis for preventing, treating and curing human diseases, and to enable research and education for the global biomedical community.
The Laboratory's research staff of more than 500 investigates the genetic basis of cancers, heart disease, osteoporosis, Alzheimer's disease, glaucoma, diabetes and many other human diseases and disorders, as well as normal development, reproduction and aging. The Laboratory is also the world's source for more than 4,000 strains of genetically defined mice, is home of the mouse genome database and is an international hub for scientific courses, conferences, training and education.
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