First Mouse Model of Timothy Syndrome Debuts

Researchers have created the first mouse model of Timothy syndrome, a rare genetic disorder that causes heart defects and autism. Researchers first presented the findings, published 30 August in the Proceedings of the National Academy of Sciences, at the Society for Neuroscience annual meeting last November.Individuals with the syndrome carry mutations in the CACNA1C gene, which controls the flow of calcium ions in and out of cells. The mutant mice, which express the defective gene at one-third the normal level, show mild social deficits, repetitive behavior and shorter vocalizations than controls."We have here all three elements of the classic autistic triad: the social behaviors, the repetitive behaviors and the communications difficulty," says lead investigator Richard Tsien, professor of molecular and genetic medicine at Stanford University in Palo Alto, California.Read more at...SFARI, September 2011.