The human autosomal dominant disorder oculodentodigital dysplasia (ODDD) is characterized by developmental anomalies of the limbs, teeth, face and eyes. Mutations in the gap junction protein alpha 1 gene (GJA1), which encodes connexin 43 (Cx43), have recently been linked to ODDD. Now, Flenniken and colleagues describe a heterozygous mutant mouse(Gja1Jrt/+) that exhibits many of the characteristics of human ODDD (see p. 4375). The mutant mice have a point mutation in Gja1 that causes a substitution of a highly conserved amino acid (G60S) in Cx43. The researchers show that this mutant Cx43 acts in a dominant- negative manner to disrupt gap junction assembly and function in vivo and in vitro. They also describe the phenotype of the Cja1Jrt/+ mice in detail,highlighting some abnormalities not normally seen in human ODDD patients but which might cause problems as these individuals age.
Closing the gap on oculodentodigital dysplasia
Closing the gap on oculodentodigital dysplasia. Development 1 October 2005; 132 (19): e1906. doi:
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