L-type voltage dependent calcium channel activity is one of the primary ways calcium ions enter the cell from the extracellular space and has a critical role in intracellular signaling. The alpha 1F subunit makes up the central pore forming portion of the L-type voltage dependent calcium channel, Cav1.4. Genetic defects in Cav1.4 can cause human incomplete congenital stationary night blindness. Female mice that are homozygous and male mice that are hemizygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. A lower molecular weight gene product (protein) is detected by Western blot analysis of retinal tissue. Immunohistochemical examination of adult retina from homozygotes reveals diminished and diffuse staining for Cacna1s (calcium channel, voltage-dependent, L type, alpha 1S subunit), mGluR6 (glutamate receptor 6), Serca2 (ATPase, Ca++ transporting, cardiac muscle, slow twitch 2), and photoreceptor synapse extracellular matrix component dystroglycan; staining for Vlgr1/Gpr98 (very large G protein-coupled receptor 1/G protein-coupled receptor 98) was mislocated. The Donating Investigator reports that this targeted mutation is a loss of function allele. This strain was generated from breeding (Stock No. 017760) mice to a germ line Cre recombinase expressing strain.
