Ontology highlight
ABSTRACT:
SUBMITTER: Su Y
PROVIDER: S-EPMC6729756 | biostudies-literature | 2004 Apr
REPOSITORIES: biostudies-literature
Su Yuhua Y Balice-Gordon Rita J RJ Hess Darren M DM Landsman Douglas S DS Minarcik Jeremy J Golden Jeffrey J Hurwitz Ivy I Liebhaber Stephen A SA Cooke Nancy E NE
The Journal of neuroscience : the official journal of the Society for Neuroscience 20040401 14
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 cond ...[more]