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The Journal of Neuroscience, April 7, 2004, 24(14):3627-3636; doi:10.1523/JNEUROSCI.4644-03.2004

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Cellular/Molecular
Neurobeachin Is Essential for Neuromuscular Synaptic Transmission

Yuhua Su,¹ Rita J. Balice-Gordon,² Darren M. Hess,² Douglas S. Landsman,² Jeremy Minarcik,^3,4 Jeffrey Golden,^3,4 Ivy Hurwitz,¹ Stephen A. Liebhaber,¹ and Nancy E. Cooke¹

Departments of ¹Genetics and Medicine, ²Neuroscience, and ³Pathology and the ⁴Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104

We report a random disruption in the mouse genome that resulted in lethal paralysis in homozygous newborns. The disruption blocked expression of neurobeachin, a protein containing a BEACH (beige and Chediak-Higashi) domain implicated in synaptic vesicle trafficking and an AKAP (A-kinase anchor protein) domain linked to localization of cAMP-dependent protein kinase activity. nbea-null mice demonstrated a complete block of evoked synaptic transmission at neuromuscular junctions, whereas nerve conduction, synaptic structure, and spontaneous synaptic vesicle release were completely normal. These findings support an essential role for neurobeachin in evoked neurotransmitter release at neuromuscular junctions and suggest that it plays an important role in synaptic transmission.

Key words: action potential; axon; neuromuscular; vesicle; synapse; neurobeachin

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Received Oct 14, 2003; revised February 4, 2004; accepted February 10, 2004.

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