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

Osten, P., Stern-Bach, Y. (June 2006) Learning from stargazin: the mouse, the phenotype and the unexpected. Current Opinion in Neurobiology, 16 (3). pp. 275-80. ISSN 0959-4388

URL: http://www.ncbi.nlm.nih.gov/pubmed/16678401
DOI: 10.1016/j.conb.2006.04.002

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.

Item Type: Paper
Uncontrolled Keywords: Animals Brain metabolism physiopathology Calcium Channels genetics metabolism Mice Mice Neurologic Mutants Phenotype Protein Isoforms genetics metabolism Protein Subunits genetics metabolism Protein Transport/genetics Receptors, AMPA/genetics/*metabolism Synapses/genetics/*metabolism Synaptic Transmission/*genetics
Subjects: organism description > animal behavior
organs, tissues, organelles, cell types and functions > sub-cellular tissues: types and functions > calcium channel
organism description > animal > mammal > rodent > mouse
CSHL Authors:
Communities: CSHL labs > Osten lab
Depositing User: CSHL Librarian
Date: 16 June 2006
Date Deposited: 09 Dec 2011 18:04
Last Modified: 08 Apr 2013 15:09
Related URLs:
URI: http://repository.cshl.edu/id/eprint/22875

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