The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

Cacna1s  -  calcium channel, voltage-dependent, L type...

Mus musculus

Synonyms: AW493108, Cach1, Cach1b, Cacn1, Cacnl1a3, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Cacna1s

  • Results using the hamster, chicken, and mouse (dy25, dy, mdg, and mdx) myopathies are discussed [1].
  • Furthermore, mdg/mdg nervous tissue, or its conditioned medium, is associated with a higher incidence of morphologically abnormal myotube contractures [2].

Psychiatry related information on Cacna1s


High impact information on Cacna1s


Biological context of Cacna1s

  • The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32 [8].
  • Using both chromosomal in situ hybridization and molecular techniques, we report the genetic localization of the gene coding for the alpha 1 subunit of the skeletal slow Ca2+ current channel/DHP receptor gene (Cchl1a3) on human Chromosome (Chr) 1 (1q31-1q32 region) and on mouse Chr 1 (region (F-G)) [8].
  • The effect of TTX shows that aneural pma primary myotubes discharge spontaneous myogenic action potentials, while mdg muscles may receive greater than normal electrical activation due to their hyperinnervation, explaining the presence and numbers of secondary myotubes in the mutant mouse muscles [7].
  • Different glucosephosphate isomerase variants existed in the mdg/mdg and normal cells comprising these chimeras and the mutant, normal, or mosaic genotypes of chimera diaphragm and skeletal muscle was estimated by measuring the relative proportions of each isozyme [9].
  • Muscles in mdg mice are paralyzed due to the absence of excitation-contraction coupling and hyperinnervated due to suppression of motoneuron death in consequence of their paralysis, but otherwise are electrically excitable and receive synaptic transmission [7].

Anatomical context of Cacna1s

  • Similar alterations in activity and mRNA levels of AChE were also observed form skeletal muscle cell lines derived from mdg mice [10].
  • The number of secondary myotubes, however, was normal in pma mutants and two and a half times greater than normal in the hyperinnervated mdg EDL muscles, so that the ratio of secondary to primary myotubes was increased by 300% in the mutant with respect to heterozygous or -/- littermates [7].
  • In muscular dysgenesis (mdg) both skeletal muscle and motor innervation present an abnormal differentiation at birth (Rieger and Pinçon-Raymond. 1981) [11].
  • However, the biosynthesis of the basal lamina is not totally defective as, at Day 18, mdg/mdg myotubes possess basal lamina sheaths [11].
  • These abnormalities could result entirely as secondary consequences of the primary muscle defect or from expression of the mdg defect in additional cell types, e.g., motor neurons [9].

Associations of Cacna1s with chemical compounds

  • The mdg mutation is retained in the 129DA3 cell line and occurs exclusively at nucleotide position 4010 in the skeletal alpha 1 transcript in which a cytosine residue is deleted [12].
  • Myotubes prepared from mice with muscular dysgenesis (mdg) were used to further elucidate the putative role of inositol triphosphate (InsP3) in excitation-contraction (E-C) coupling of skeletal muscle [13].
  • Myotubes prepared from embryos of mice with muscular dysgenesis (mdg/mdg) did not contract and had action potentials which were never followed by a.h.p.'s. Voltage-clamp experiments have shown that Na+ channel activity was identical in mutant and control muscles and that the activity of fast and slow Ca2+ channels was nearly absent in the mutant [14].
  • The proportion of spleen colony-forming units (CFU-s) killed by hydroxyurea was greatly increased after bone marrow cells (BMCs) from LACA mice were exposed to carbamylcholine (Cach; 1 X 10(-13) to 1 X 10(-9) in vitro and there was a marked change in the proportion of spleen colony types [15].
  • Creatine phosphokinase activity in dysgenic (mdg/mdg) mouse muscle [16].

Other interactions of Cacna1s


Analytical, diagnostic and therapeutic context of Cacna1s


  1. Tissue culture studies of muscle disorders: Part 2. Biochemical studies, nerve-muscle culture, metabolic myopathies, and animal models. Witkowski, J.A. Muscle Nerve (1986) [Pubmed]
  2. Early effects in vitro of the muscular dysgenesis mutation on nervous tissue in the mouse. Wieczorek, D.F. Muscle Nerve (1984) [Pubmed]
  3. Developmental induction of DHPR alpha 1s and RYR1 gene expression does not require neural or mechanical signals. Radzyukevich, T.L., Cougnon, M.H., Moseley, A.E., Heiny, J.A. J. Muscle Res. Cell. Motil. (2004) [Pubmed]
  4. Restoration of normal function in genetically defective myotubes by spontaneous fusion with fibroblasts. Chaudhari, N., Delay, R., Beam, K.G. Nature (1989) [Pubmed]
  5. Restoration of dysgenic muscle contraction and calcium channel function by co-culture with normal spinal cord neurons. Rieger, F., Bournaud, R., Shimahara, T., Garcia, L., Pinçon-Raymond, M., Romey, G., Lazdunski, M. Nature (1987) [Pubmed]
  6. The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1. Anderson, A.A., Altafaj, X., Zheng, Z., Wang, Z.M., Delbono, O., Ronjat, M., Treves, S., Zorzato, F. J. Cell. Sci. (2006) [Pubmed]
  7. Regulation of myogenesis in paralyzed muscles in the mouse mutants peroneal muscular atrophy and muscular dysgenesis. Ashby, P.R., Pinçon-Raymond, M., Harris, A.J. Dev. Biol. (1993) [Pubmed]
  8. The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32. Drouet, B., Garcia, L., Simon-Chazottes, D., Mattei, M.G., Guénet, J.L., Schwartz, A., Varadi, G., Pinçon-Raymond, M. Mamm. Genome (1993) [Pubmed]
  9. Disease expression in +-/+- ----mdg/mdg mouse chimeras: evidence for an extramuscular component in the pathogenesis of both dysgenic abnormal diaphragm innervation and skeletal muscle 16 S acetylcholinesterase deficiency. Rieger, F., Cross, D., Peterson, A., Pinçon-Raymond, M., Tretjakoff, I. Dev. Biol. (1984) [Pubmed]
  10. Acetylcholinesterase and nicotinic acetylcholine receptor expression diverge in muscular dysgenic mice lacking the L-type calcium channel. Luo, Z.D., Pincon-Raymond, M., Taylor, P. J. Neurochem. (1996) [Pubmed]
  11. Extensive nerve overgrowth and paucity of the tailed asymmetric form (16 S) of acetylcholinesterase in the developing skeletal neuromuscular system of the dysgenic (mdg/mdg) mouse. Rieger, F., Powell, J.A., Pinçon-Raymond, M. Dev. Biol. (1984) [Pubmed]
  12. Endogenous cardiac Ca2+ channels do not overcome the E-C coupling defect in immortalized dysgenic muscle cells: evidence for a missing link. Varadi, G., Mikala, G., Lory, P., Varadi, M., Drouet, B., Pinçon-Raymond, M., Schwartz, A. FEBS Lett. (1995) [Pubmed]
  13. Receptor-triggered polyphosphoinositide turnover produces less cytosolic free calcium in cultured dysgenic myotubes than in normal myotubes. Tassin, A.M., Häggblad, J., Heilbronn, E. Muscle Nerve (1990) [Pubmed]
  14. The electrophysiological expression of Ca2+ channels and of apamin sensitive Ca2+ activated K+ channels is abolished in skeletal muscle cells from mice with muscular dysgenesis. Romey, G., Rieger, F., Renaud, J.F., Pinçon-Raymond, M., Lazdunski, M. Biochem. Biophys. Res. Commun. (1986) [Pubmed]
  15. The effect of carbamylcholine on CFU-s differentiation. Hu, X.T., Xu, Y.H., Zhou, Y.J. Int. J. Cell Cloning (1990) [Pubmed]
  16. Creatine phosphokinase activity in dysgenic (mdg/mdg) mouse muscle. Essien, F.B., Biber, C.L. Biochem. Genet. (1977) [Pubmed]
  17. Unusual organization of desmin intermediate filaments in muscular dysgenesis and TTX-treated myotubes. Tassin, A.M., Pinçon-Raymond, M., Paulin, D., Rieger, F. Dev. Biol. (1988) [Pubmed]
  18. The gene for the alpha 1 subunit of the skeletal muscle dihydropyridine-sensitive calcium channel (Cchl1a3) maps to mouse chromosome 1. Chin, H., Krall, M., Kim, H.L., Kozak, C.A., Mock, B. Genomics (1992) [Pubmed]
  19. M-calpain levels increase during fusion of myoblasts in the mutant muscular dysgenesis (mdg) mouse. Joffroy, S., Dourdin, N., Delage, J.P., Cottin, P., Koenig, J., Brustis, J.J. Int. J. Dev. Biol. (2000) [Pubmed]
  20. Mammalian motoneuron axon targeting requires receptor protein tyrosine phosphatases sigma and delta. Uetani, N., Chagnon, M.J., Kennedy, T.E., Iwakura, Y., Tremblay, M.L. J. Neurosci. (2006) [Pubmed]
  21. Distribution and quantification of ACh receptors and innervation in diaphragm muscle of normal and mdg mouse embryos. Powell, J.A., Rieger, F., Blondet, B., Dreyfus, P., Pinçon-Raymond, M. Dev. Biol. (1984) [Pubmed]
  22. Regulation of dihydropyridine receptor gene expression in mouse skeletal muscles by stretch and disuse. Radzyukevich, T.L., Heiny, J.A. Am. J. Physiol., Cell Physiol. (2004) [Pubmed]
  23. An electrophysiological study of skeletal muscle fibres in the 'muscular dysgenesis' mutation of the mouse. Bournaud, R., Mallart, A. Pflugers Arch. (1987) [Pubmed]
WikiGenes - Universities