Kidney disease insight from a knockout mouse
When DNA is damaged, cells have sophisticated repair mechanisms to repair damaged sites. In order to learn more about the way cells repair a certain type of DNA damage, researchers developed a mouse that lacked FAN1, which is one of the genes involved in DNA repair. This type of mouse is called a ‘knockout’ mouse, because the gene has been ‘knocked out.’
But they found that their knockout mouse could give them even more information than they originally thought. When humans lack FAN1, they develop a disease (called karyomegalic interstitial nephritis) that leads to kidney failure when they’re about 30 years old. When researchers looked at kidney and liver cells from FAN1 knockout mice, they found that there were similarities to kidney cells from humans with karyomegalic interstitial nephritis.
The FAN1 knockout mouse will help researchers understand what FAN1 does in the cell and how it repairs damaged DNA, and it also seems that this mouse is a good model for this particular human disease. It will be interesting to see how the FAN1 knockout mouse helps scientists in future research. Read more about it here.