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Article

A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.

Human molecular genetics - 1 Mar 2002

Chang Bo, Wang Xin, Hawes Norman L, Ojakian Ryan, Davisson Muriel T, Lo Woo-Kuen, Gong Xiaohua

Abstract excerpt

Mutations of connexin alpha 8 (GJA8 or Cx50) and connexin alpha 3 (GJA3 or Cx46) in humans have been reported to cause cataracts with semi-dominant inheritance patterns. Targeted null mutations in Gja8 and Gja3 in mice cause cataracts with recessive inheritance. The molecular bases for these differences in inheritance patterns and the mechanism for cataractogenesis in these mutants are poorly understood. We...

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Source

Identifiers

PMID: 11875045
DOI: 10.1093/hmg/11.5.507

Genes

GJA3
GJA8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.PMID 11875045Read ↗

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