Learning from stargazin: the mouse, the phenotype and the unexpected

Osten, Pavel; Stern-Bach, Yael

doi:10.1016/j.conb.2006.04.002

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Learning from stargazin: the mouse, the phenotype and the unexpected

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Osten, Pavel
Department of Molecular Neurobiology, Max Planck Institute for Medical Research, Max Planck Society;

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http://www.sciencedirect.com/science/article/pii/S0959438806000511/pdfft?md5=cc8805798d0fc925b978ec08c9635b45&pid=1-s2.0-S0959438806000511-main.pdf
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Citation

Osten, P., & Stern-Bach, Y. (2006). Learning from stargazin: the mouse, the phenotype and the unexpected. Current Opinion in Neurobiology, 16(3), 275-280. doi:10.1016/j.conb.2006.04.002.

Cite as: https://hdl.handle.net/11858/00-001M-0000-002A-EBD7-3

Abstract

The stargazin gene (also referred to as Cacng2) has been identified by forward genetics in a spontaneous mouse mutant with ataxic gait, upward head-elevating movements (hence the name stargazer for the mouse) and episodes of spike-wave discharges. Stargazin is related to the gamma-1 subunit of skeletal muscle voltage-dependent calcium channel (VDCC), and a deficit in its role as auxiliary VDCC subunit was proposed to underlie the epileptic phenotype of the mouse; yet, a conclusive demonstration of stargazin function in VDCC regulation is still lacking. In contrast, stargazin and its three closely related isoforms gamma-3, gamma-4 and gamma-8 were shown to function as auxiliary subunits for a very different ion channel - the AMPA-type glutamate receptor - prominently regulating early intracellular transport, synaptic targeting and anchoring, and ion channel functions of this major excitatory receptor in the brain.