A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.

ABSTRACT: Major intrinsic protein of lens fiber (MIP) is one of the proteins essential for maintaining lens transparency while also contributing to dominant cataracts in humans. The Nodai cataract (Nat) mice harbor a spontaneous mutation in Mip and develop early-onset nuclear cataracts. The Nat mutation is a c.631G>A mutation (Mip^Nat), resulting in a glycine-to-arginine substitution (p.Gly211Arg) in the sixth transmembrane domain. The Mip^Nat/Nat homozygotes exhibit congenital cataracts caused by the degeneration of lens fiber cells. MIP normally localizes to the lens fiber cell membranes. However, the Mip^Nat/Nat mice were found to lack an organelle-free zone, and the MIP was mislocalized to the nuclear membrane and perinuclear region. Furthermore, the Mip^Nat/+</

SUBMITTER: Takahashi G 

PROVIDER: S-EPMC5543248 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature