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Pde6brd1 mutation modifies cataractogenesis in Foxe3rct mice
Kenta Wada1, Junichi Saito2, Midori Yamaguchi3
1Graduate School of Bioindustry, Tokyo University of Agriculture, Abashiri, Hokkaido, 099-2493, Japan; Mammalian Genetics Project, Tokyo Metropolitan Institute of Medical Science, Setagaya-ku, Tokyo, 156-8506, Japan.
Biochemical and Biophysical Research Communications
|January 11, 2018
Summary
The Foxe3 mutation causes early-onset cataracts. Genetic background significantly impacts cataract severity, with Pde6b mutation exacerbating the condition in mice.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- The Foxe3rct mutation in SJL/J mice leads to early-onset cataracts.
- Cataract severity is influenced by genetic background, with the Pde6brd1 mutation potentially accelerating cataractogenesis.
Purpose of the Study:
- To investigate the role of genetic background and the Pde6b gene in modifying cataract phenotypes associated with the Foxe3rct mutation.
- To determine if the Pde6brd1 mutation is essential for severe cataract development in Foxe3rct mice.
Main Methods:
- Created congenic mice by transferring the Foxe3rct mutation to a B6 genetic background lacking the Pde6brd1 mutation.
- Developed transgenic mice by introducing wild-type Pde6b genes into SJL-Foxe3rct mice.
Main Results:
- Congenic mice exhibited significantly milder cataract phenotypes, with suppressed development.
- Transgenic mice showed improved cataract severity and delayed onset compared to original SJL-Foxe3rct mice, though less pronounced than in congenic mice.
Conclusions:
- Early-onset cataracts in this model require at least two mutant alleles: Foxe3rct and Pde6brd1.
- Genetic background modifiers significantly influence cataract severity in Foxe3rct mice.
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