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Publication : Genetic factors influence cataract formation in alpha 3 connexin knockout mice.

First Author  Gong X Year  1999
Journal  Dev Genet Volume  24
Issue  1-2 Pages  27-32
PubMed ID  10079508 Mgi Jnum  J:53373
Mgi Id  MGI:1332355 Doi  10.1002/(SICI)1520-6408(1999)24:1/2<27::AID-DVG4>3.0.CO;2-7
Citation  Gong X, et al. (1999) Genetic factors influence cataract formation in alpha 3 connexin knockout mice. Dev Genet 24(1-2):27-32
abstractText  Connexin alpha(3) (Cx46 or Gja3) gene targeted null mice developed lens nuclear cataracts shortly after birth. A large variance in the cataracts was observed in alpha(3) null sibs on a mixed 129Svjae x C57BL/6J F3 background. This suggested that the genetic background might influence the cataract phenotype. Therefore, we placed the alpha(3) null mutation into a 129SvJae background, and also backcrossed the mutation for six generations into 120SvJ and C57BL/6J backgrounds. While alpha(3) nulls on the two 129 backgrounds contained severe cataracts associated with gamma crystallin cleavage, alpha(3) nulls on the C57B16 background had far milder cataracts with no detectable gamma crystallin cleavage. These findings suggest thai a genetic modifier exists that influences gamma crystallin stability, and that gamma crystallin breakdown is associated with severe nuclear cataracts. (C) 1999 Wiley- Liss, Inc.
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