The L-type calcium channels are central regulators of intracellular calcium influx and excitation-contraction coupling in striated muscle, as well as excitability and calcium-mediated signaling in neurons. L-type calcium channel dysregulation has been implicated in pathologies of the heart, such as QT prolongation, as well as skeletal muscle myopathies and neurodegenerative diseases. Cacna1c (calcium channel, voltage-dependent, L type, alpha 1C subunit; also called Cav1.2), encodes the alpha subunit and pore-forming component of the L-type voltage-dependent calcium channel.
Exons 14 and 15 of the mouse Cacna1c gene are flanked by loxP sites in this conditional mutant strain. In the absence of Cre recombinase mice are viable and show no overt phenotype. Cre-mediated recombination produces a frameshift resulting in a premature stop codon and loss of protein. Homozygous knockout embryos die before embryonic day 14.5, but demonstrate a normal heartbeat at embryonic day 12.5.
