Rare and Orphan Disease Mouse Models
Search for mouse models by human disease term.
Rare and orphan diseases affect fewer than 200,000 individuals in the United States, and nearly 700,000 rare diseases have been described to date. The Jackson Laboratory offers the world's largest collection of spontaneous, targeted, and transgenic mutant mouse strains, hundreds of which model rare diseases.
Search for mouse models by human disease term.
Discover helpful tools for advancing your rare and orphan disease research.
The Rare and Orphan Disease Center brings together global mouse resources and the expertise of scientists at the Jackson Laboratory for a start-to-finish approach to model development.
Resources for people who are interested in learning more about rare diseases, clinical trials, and research programs.
Rare and Orphan Disease Research Tools and Online Resources
JAX distributes well-characterized, preclinical mouse models to accelerate drug discovery for rare and orphan diseases.
We engineer new models and enhance existing models through genetic standardization and characterization to ensure reproducibility of data...
We partner with foundations, pharmaceutical and biotech companies, and other scientists to research treatments for uncommon...
Families have banded together from across the globe to make awareness and research for SMARD a reality.
Efficacy studies are performed by JAX on mouse models for these diseases: C57BL10.mdx and D2.mdx for DMD, DyW for CMD1A, and A/J for...
Using the right mouse model can reveal various biological intricacies and may lead to potential therapeutic treatments. In a recent study,...
Did you know that almost all of us have the sort of genetic mutations that cause rare genetic diseases?
JAX has teamed with Lovelace Biomedical, Exemplar Genetics, Iontox and the University of Pennsylvania to win a new $17M contract with the...
JAX Professor Robert Burgess and collaborators are developing personalized gene therapy for a Texas child suffering from a neuromuscular...
Genetic diversity should be accounted for in pre-clinical tests, and researchers need to select the right model system to mimic human...
What should healthcare professionals do to incorporate genomic medicine into patient care? Here are the keys to genomic risk...
JAX neuroscientist Cat Lutz, Ph.D., gave a TED-style talk about strides in rare disease research as part of the Laboratory’s JAXtaposition...
This new video from The Cox Lab video offers an inside look at the research goals of Amy Hicks, a postdoctoral associate who is studying...
There are more than 7,000 rare (also known as orphan) diseases affecting over 350 million people worldwide. Developing new therapies for...