Genetic factors influence cataract formation in alpha 3 connexin knockout mice

Autor:	X, Gong, K, Agopian, N M, Kumar, N B, Gilula
Rok vydání:	1999
Předmět:	Male Mice Knockout Blotting Western Mice Inbred Strains Crystallins Cataract Connexins Mice Inbred C57BL Mice Phenotype Lens Crystalline Animals Female Crosses Genetic
Zdroj:	Developmental genetics. 24(1-2)
ISSN:	0192-253X
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::a5bbb26b8ed71bcb3fa35152c533998f https://pubmed.ncbi.nlm.nih.gov/10079508 Zobrazit plný text záznamu Plný text