Cacna1a

Species Mus musculus
Alternate Name(s) la, tg, EA2, FHM, MHP, rkr, APCA, HPCA, MHP1, SCA6, Ccha1a, leaner, rocker, alpha1A, tottering
Description calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Chromosome 8
Locus 8 38.5 cM
Human Homolog CACNA1A
Protein Alignment Homo sapiens:

Mus musculus:
Reference(s) Caddick SJ, Wang C, Fletcher CF, Jenkins NA, Copeland NG, Hosford DA. Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami. J Neurophysiol. 1999 May;81(5):2066-74.

Doyle J, Ren X, Lennon G, Stubbs L. Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mamm Genome. 1997 Feb;8(2):113-20.

Fletcher CF, Lutz CM, O'Sullivan TN, Shaughnessy JD Jr, Hawkes R, Frankel WN, Copeland NG, Jenkins NA. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell. 1996 Nov 15;87(4):607-17.

Helekar SA, Noebels JL. A burst-dependent hippocampal excitability defect elicited by potassium at the developmental onset of spike-wave seizures in the Tottering mutant. Brain Res Dev Brain Res. 1992 Feb 21;65(2):205-10.

Helekar SA, Noebels JL. Synchronous hippocampal bursting reveals network excitability defects in an epilepsy gene mutation. Proc Natl Acad Sci U S A. 1991 Jun 1;88(11):4736-40.

Kostopoulos G, Psarropoulou C, Haas HL. Membrane properties, response to amines and to tetanic stimulation of hippocampal neurons in the genetically epileptic mutant mouse tottering. Exp Brain Res. 1988;72(1):45-50.

Noebels JL, Rutecki PA. Altered hippocampal network excitability in the hypernoradrenergic mutant mouse tottering. Brain Res. 1990 Aug 6;524(2):225-30.

Noebels JL, Sidman RL. Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science. 1979 Jun 22;204(4399):1334-6.

Qiao XX, Noebels JL. Genetic and phenotypic heterogeneity of inherited spike-wave epilepsy: two mutant gene loci with independent cerebral excitability defects. Brain Res. 1991 Jul 26;555(1):43-50.

Zhang Y, Mori M, Burgess DL, Noebels JL. Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J Neurosci. 2002 Aug 1;22(15):6362-71.

Zhou YD, Turner TJ, Dunlap K. Enhanced G protein-dependent modulation of excitatory synaptic transmission in the cerebellum of the Ca2+ channel-mutant mouse, tottering. J Physiol. 2003 Mar 1;547(Pt 2):497-507. Epub 2003 Jan 24.

Zwingman TA, Neumann PE, Noebels JL, Herrup K. Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. J Neurosci. 2001 Feb 15;21(4):1169-78.

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