Register New MMRRC Account
Register for New Mouse Models
Click Here for Additional Contact Information
The search for new treatments and cures for rare diseases is an ongoing challenge for researchers worldwide
One of the key strategies in this effort is the identification of genes that may be implicated in these diseases, particularly those involved in ciliopathies - a group of rare genetic disorders caused by defects in the function or
structure of cilia.
At the MMRRC, we constantly explore innovative ways to advance medical research and improve patient outcomes. A recent study used the International Mouse Phenotyping Consortium (IMPC) database of single-gene knockout (KO) mice to
identify candidate ciliopathy genes. These mice are found and available from the MMRRC.
The approach involved screening mouse lines with ocular, renal, or reproductive trait abnormalities for phenotypes. Then, the STRING protein interaction tool was used to identify interactions between known cilia gene products and those
encoded by the genes in individual knockout mouse strains. This allowed generation of a list of "candidate ciliopathy genes" - 32 genes encoded proteins that were predicted to interact with known ciliopathy proteins. Of these, 25 had no
previously described roles in ciliary pathobiology.
To provide evidence of the potential clinical relevance of these candidate genes, histological and morphological data was presented from knockout mouse lines with phenotypes resembling those found in ciliopathies. These included genes
such as Abi2, Wdr62, Ap4e1, Dync1li1, and Prkab1.
The study demonstrates the power of the IMPC phenotype data for mechanistic studies, target discovery, rare disease diagnosis, and preclinical therapeutic development trials. By uncovering genes with no previously known role in ciliary
biology, new avenues for research and potential treatments for ciliopathies are open for discovery.
At the MMRRC, we are committed to advancing medical research and improving patient outcomes. Our study is just one example of the innovative research being conducted in our labs every day. Stay tuned for more exciting developments in
the search for new treatments and cures for rare diseases.
Higgins, K., Moore, B.A., Berberovic, Z. et al. Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes. Sci Rep 12, 20791 (2022).