Genetic factors influence cataract formation in alpha 3 connexin knockout mice.
Dev Genet
; 24(1-2): 27-32, 1999.
Article
en En
| MEDLINE
| ID: mdl-10079508
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 129SvJ 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 that a genetic modifier exists that influences gamma crystallin stability, and that gamma crystallin breakdown is associated with severe nuclear cataracts.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Catarata
/
Conexinas
/
Cristalinas
/
Cristalino
Límite:
Animals
Idioma:
En
Revista:
Dev Genet
Año:
1999
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos