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. Author manuscript; available in PMC: 2023 Sep 5.
Published in final edited form as: Dev Neurobiol. 2016 Jun 24;77(5):643–673. doi: 10.1002/dneu.22405

Table 1.

Channelopathies of GJ Genes and the Resulting Patterning Defects

Gap Junction Protein Morphogenetic Role or LOF Phenotype Species Reference
Innexins Gonad and germline morphogenesis C. elegans (Starich et al., 2014)
Innexin1,2 Epithelial patterning, foregut development Drosophila (Bauer et al., 2002)
Innexin 2 Eye size Drosophila (Richard and Hoch, 2015)
Innexins Foregut, cuticle (epithelial) patterning Drosophila (Bauer et al., 2004)
Connexin 43 Oculodentodigital dysplasia (ODDD), heart defects (outflow tract and conotruncal), left-right asymmetry randomization, Osteoblast differentiation problems, craniofacial defects, myogenesis Human, mouse, chick (Britz-Cunningham et al., 1995; Reaume et al., 1995; Ewart et al., 1997; Becker et al., 1999; Levin and Mercola, 1999; Lecanda et al., 2000; Araya et al., 2003; Pizzuti et al., 2004; Debeer et al., 2005; Civitelli, 2008)
Connexin 37 Lymphatic system patterning Mouse (Kanady et al., 2011., 2015)
Connexin 45 Cardiac defects (cushion patterning) Mouse (Kumai et al., 2000; Nishii et al., 2001)
Connexin 50, Connexin 46 eye patterning (differentiation and proliferation, especially lens), Mouse (White, 2002)
Connexin 26 Cochlear development Mouse (Chang et al., 2014)
Connexin 41.8 Pigmentation pattern Zebrafish (Watanabe et al., 2006)
Connexin 43 Fin size and pattern regulation Craniofrontonasal syndrome Zebrafish
Mouse
(Iovine et al., 2005; Davy et al., 2006; Hoptak-Solga et al., 2008; Sims et al., 2009)
Innexin 4, Innexin 2 Germline differentiation and spermatogenesis Drosophila (Smendziuk et al., 2015)
Pannexin 3 Skeletal development Mouse (Oh et al., 2015)