Gene Affected
Gja8: gap junction membrane channel protein alpha 8
Origin
This mutant strain showing hereditary cataract was detected in Sprague-Dawley rat colony.
Strain characteristics
Homozygous rats show early-onset cataract and heterozygous rats show late-onset cataract. A candidate gene for formation of cataracts in UPL rats was mapped to rat chr 2, and the missense mutation (R340W) in connexin 50 (Cx50/Gja8) gene was a strong candidate.
References
Tomohiro M, Maruyama Y, Yazawa K, Shinzawa S, Mizuno A.
The UPL rat: a new model for hereditary cataracts with two cataract formation types.
Exp Eye Res. 1993 Oct;57(4):507-10.
Tomohiro M, Aida Y, Inomata M, Ito Y, Mizuno A, Sakuma S.
Immunohistochemical study of calpain-mediated alpha-crystallin proteolysis in the UPL rat hereditary cataract.
Jpn J Ophthalmol. 1997 May-Jun;41(3):121-9.
Nabekura T, Koizumi Y, Nakao M, Tomohiro M, Inomata M, Ito Y.
Delay of cataract development in hereditary cataract UPL rats by disulfiram and aminoguanidine.
Exp Eye Res. 2003 Feb;76(2):169-74.
Nabekura T, Tomohiro M, Ito Y, Kitagawa S.
Changes in plasma membrane Ca2+ -ATPase expression and ATP content in lenses of hereditary cataract UPL rats.
Toxicology. 2004 Apr 15;197(2):177-83.
Nagai N, Ito Y.
Adverse effects of excessive nitric oxide on cytochrome c oxidase in lenses of hereditary cataract UPL rats.
Toxicology. 2007 Dec 5;242(1-3):7-15. Epub 2007 Sep 8.
Nagai N, Ito Y, Okamura H.
Involvement of interleukin 18 in cataract development in hereditary cataract UPL rats.
J Biochem. 2007 Nov;142(5):597-603.
Nagai N, Ito Y, Takeuchi N, Usui S, Hirano K.
Comparison of the mechanisms of cataract development involving differences in Ca2+ regulation in lenses among three hereditary cataract model rats.
Biol Pharm Bull. 2008 Nov;31(11):1990-5.