Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice

摘要: Cataract Tohoku (Cat(Tohm)) is a dominant cataract mutation that leads to severe degeneration of lens fiber cells. Linkage analysis showed the Cat(Tohm) located on mouse chromosome 10, close gene for aquaporin-0 (Aqp0), which encodes membrane protein expressed specifically in Sequence Aqp0 revealed 12-bp deletion without any change reading frame, resulted four amino acids within second transmembrane region AQP0 protein. Targeted expression mutated caused opacity transgenic mice, pathological severity depended level transgene. The was localized intracellular and perinuclear spaces rather than plasma membranes phenotype by gain-of-function not loss-of-function mutation.