D400A mutation in mice has been confirmed to cause inhibition of 3'–5' exonuclease activity by in vitro biochemical analysis [17].
Ratcliff, R. et al. Production of a severe cystic fibrosis mutation in mice by gene targeting.
What can a clock mutation in mice tell us about bipolar disorder?
The Clock mutation in mice was identified by an N-ethyl-N-nitrosourea mutagenesis screen of circadian periods31.
Spoelstra, K., Wikelski, M., Daan, S., Loudon, A. S. & Hau, M. Natural selection against a circadian clock gene mutation in mice.
J. et al. Setting clock speed in mammals: the CK1 epsilon tau mutation in mice accelerates circadian pacemakers by selectively destabilizing PERIOD proteins.
Studies on a null mutation in mice previously revealed that Nup133 is essential for embryonic development but not for mouse embryonic stem cell (mESC) proliferation.
Kulkarni AB, Huh CG, Becker D, Geiser A, Lyght M, Flanders KC et al. Transforming growth factor beta 1 null mutation in mice causes excessive inflammatory response and early death.
Once Lupski identified the first genetic variation for Charcot-Marie-Tooth in 1991, researchers used genetic engineering to re-create that mutation in mice and then used those animals to test potential treatments.
In 2007, Mark Bear, a neuroscientist at MIT and cofounder of Seaside, and his collaborators discovered that they could reverse the deficits caused by the fragile X mutation in mice by turning down the activity of a receptor called metabotropic glutamate receptor 5 (mGluR5), found on the surface of brain cells.
