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首页> 外文期刊>Experimental Animals >A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse
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A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse

机译：MIP的新型畸形突变导致NAT老鼠的半导体白内障

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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 ( MipNat ), resulting in a glycine-to-arginine substitution (p.Gly211Arg) in the sixth transmembrane domain. The MipNat/Nat homozygotes exhibit congenital cataracts caused by the degeneration of lens fiber cells. MIP normally localizes to the lens fiber cell membranes. However, the MipNat/Nat mice were found to lack an organelle-free zone, and the MIP was mislocalized to the nuclear membrane and perinuclear region. Furthermore, the MipNat/+ mice exhibited milder cataracts than MipNat/Nat mice due to the slight degeneration of the lens fiber cells. Although there were no differences in the localization of MIP to the membranes of lens fiber cells in MipNat/+ mice compared to that in wild-type mice, the protein levels of MIP were significantly reduced in the eyes. These findings suggest that cataractogenesis in MipNat mutants are caused by defects in MIP expression. Overall, the MipNat mice offer a novel model to better understand the phenotypes and mechanisms for the development of cataracts in patients that carry missense mutations in MIP.
机译：透镜纤维的主要内在蛋白质（MIP）是用于维持镜片透明性的蛋白质之一，同时也有助于人类中的主要白内障。 Nodai白内障（NAT）小鼠覆盖MIP中的自发突变，发育早发核白内障。 NAT突变是C.631g>突变（MIP NAT ），导致第六跨膜结构域中的甘氨酸 - 精氨酸取代（P.GLY211ARG）。 MIP NAT / NAT 纯合子表现出由透镜纤维细胞变性引起的先天性白内障。 MIP通常定位于镜片纤维膜。然而，发现MIP NAT / NAT 小鼠缺乏无器材区，并且壁覆盖物在核膜和终核区域中误报。此外，由于透镜纤维细胞的轻微退化，MIP NAT / + / sup>小鼠比MIP NAT / NAT / SUP>小鼠表现出更平缓的白内障。尽管与在野生型小鼠的MIP NAT / + 小鼠中，MIP的定位与晶状体纤维细胞的膜定位没有差异，但是眼睛的蛋白质水平显着减少。这些发现表明MIP NAT 突变体中的白膜发生是由MIP表达的缺陷引起的。总的来说，MIP NAT 小鼠提供了一种新颖的模型，以更好地了解患者患者患者患者发育的表型和机制。

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