Article
A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2011
Wada Kenta, Maeda Yukiko Y, Watanabe Kei, Oshio Tatsuya, Ueda Takuya, Takahashi Gou, Yokohama Michinari, Saito Junichi, Seki Yuta, Takahama Sumiyo, Ishii Rie, Shitara Hiroshi, Taya Cyoji, Yonekawa Hiromichi, Kikkawa Yoshiaki
Abstract excerpt
The Rinshoken cataract (rct) mutation, which causes congenital cataracts, is a recessive mutation found in SJL/J mice. All mutants present with opacity in the lens by 2 months of age. The rct locus was mapped to a 1.6-Mb region in Chr 4 that contains the Foxe3 gene. This gene is responsible for cataracts in humans and mice, and it plays a crucial role in the development of the lens. Furthermore, mutation of Foxe3...
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