Genetic factors influence cataract formation in ?3 connexin knockout mice
✍ Scribed by Gong, Xiaohua ;Agopian, Kristin ;Kumar, Nalin M. ;Gilula, Norton B.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 243 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0192-253X
No coin nor oath required. For personal study only.
✦ Synopsis
Connexin ␣ 3 (Cx46 or Gja3) gene targeted null mice developed lens nuclear cataracts shortly after birth. A large variance in the cataracts was observed in ␣ 3 null sibs on a mixed 129SvJae ϫ C57BL/6J F3 background. This suggested that the genetic background might influence the cataract phenotype. Therefore, we placed the ␣ 3 null mutation into a 129SvJae background, and also backcrossed the mutation for six generations into 129SvJ and C57BL/6J backgrounds. While ␣ 3 nulls on the two 129 backgrounds contained severe cataracts associated with ␥ crystallin cleavage, ␣ 3 nulls on the C57B16 background had far milder cataracts with no detectable ␥ crystallin cleavage. These findings suggest that a genetic modifier exists that influences ␥ crystallin stability, and that ␥ crystallin breakdown is associated with severe nuclear cataracts.