Clcn1

Summary

Gene Symbol: Clcn1
Description: chloride channel, voltage-sensitive 1
Alias: Clc-1, Clc1, SMCC1, adr, mto, myotonia, nmf355, chloride channel protein 1, arrested development of righting response, chloride channel 1, chloride channel protein, skeletal muscle
Species: mouse
Products:     Clcn1

Top Publications

  1. Kimura T, Takahashi M, Fujimura H, Sakoda S. Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice. Neurosci Lett. 2003;347:191-5 pubmed
    ..No expression of SK3 protein in a myotonic mouse (ADR) suggests that the increase in the SK3 channel in myotonic dystrophy is not due to hyperexcitability...
  2. Wischmeyer E, Nolte E, Klocke R, Jockusch H, Brinkmeier H. Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals. Neuromuscul Disord. 1993;3:267-74 pubmed
    In the ADR mouse, the homozygous condition of the autosomal mutation adr, "arrested development of righting response", leads to the symptoms of myotonia...
  3. Steinmeyer K, Ortland C, Jentsch T. Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature. 1991;354:301-4 pubmed
    ..essential for membrane-potential stability, as its block by 9-anthracene-carboxylic acid and other drugs causes myotonia. Fish electric organs are developmentally derived from skeletal muscle, suggesting that mammalian muscle may ..
  4. Bryant S, Morales Aguilera A. Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids. J Physiol. 1971;219:367-83 pubmed
    ..It is concluded that these compounds block chloride conductance.4. The carboxylic acids produced myotonia in normal fibres similar to that in untreated myotonic fibres.5...
  5. Papponen H, Kaisto T, Myllyla V, Myllyla R, Metsikkö K. Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel. Exp Neurol. 2005;191:163-73 pubmed
    ..against ClC-1 revealed in muscle sections a sarcolemmal staining that was absent in the myotonic arrested development of righting response (ADR) mouse muscle...
  6. Warnstedt M, Sun C, Poser B, Escriva M, Tranebjaerg L, Torbergsen T, et al. The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1. J Neurosci. 2002;22:7462-70 pubmed
    Mutations in the muscle chloride channel gene CLCN1 cause myotonia congenita, an inherited disorder of skeletal muscle excitability leading to a delayed relaxation after muscle contraction...
  7. Lueck J, Mankodi A, Swanson M, Thornton C, Dirksen R. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J Gen Physiol. 2007;129:79-94 pubmed
    Muscle degeneration and myotonia are clinical hallmarks of myotonic dystrophy type 1 (DM1), a multisystemic disorder caused by a CTG repeat expansion in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene...
  8. Wheeler T, Lueck J, Swanson M, Dirksen R, Thornton C. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest. 2007;117:3952-7 pubmed
    ..This constellation of features, collectively known as myotonia, is associated with abnormal alternative splicing of the muscle-specific chloride channel (ClC-1) and reduced ..
  9. Mankodi A, Takahashi M, Jiang H, Beck C, Bowers W, Moxley R, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 2002;10:35-44 pubmed
    ..RNAs that contain expanded CUG or CCUG repeats is associated with degeneration and repetitive action potentials (myotonia) in skeletal muscle...
  10. Kanadia R, Johnstone K, Mankodi A, Lungu C, Thornton C, Esson D, et al. A muscleblind knockout model for myotonic dystrophy. Science. 2003;302:1978-80 pubmed
    ..Our results support the hypothesis that manifestations of DM can result from sequestration of specific RNA binding proteins by a repetitive element expansion in a mutant RNA. ..

Detail Information

Publications64

  1. Kimura T, Takahashi M, Fujimura H, Sakoda S. Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice. Neurosci Lett. 2003;347:191-5 pubmed
    ..No expression of SK3 protein in a myotonic mouse (ADR) suggests that the increase in the SK3 channel in myotonic dystrophy is not due to hyperexcitability...
  2. Wischmeyer E, Nolte E, Klocke R, Jockusch H, Brinkmeier H. Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals. Neuromuscul Disord. 1993;3:267-74 pubmed
    In the ADR mouse, the homozygous condition of the autosomal mutation adr, "arrested development of righting response", leads to the symptoms of myotonia...
  3. Steinmeyer K, Ortland C, Jentsch T. Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature. 1991;354:301-4 pubmed
    ..essential for membrane-potential stability, as its block by 9-anthracene-carboxylic acid and other drugs causes myotonia. Fish electric organs are developmentally derived from skeletal muscle, suggesting that mammalian muscle may ..
  4. Bryant S, Morales Aguilera A. Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids. J Physiol. 1971;219:367-83 pubmed
    ..It is concluded that these compounds block chloride conductance.4. The carboxylic acids produced myotonia in normal fibres similar to that in untreated myotonic fibres.5...
  5. Papponen H, Kaisto T, Myllyla V, Myllyla R, Metsikkö K. Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel. Exp Neurol. 2005;191:163-73 pubmed
    ..against ClC-1 revealed in muscle sections a sarcolemmal staining that was absent in the myotonic arrested development of righting response (ADR) mouse muscle...
  6. Warnstedt M, Sun C, Poser B, Escriva M, Tranebjaerg L, Torbergsen T, et al. The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1. J Neurosci. 2002;22:7462-70 pubmed
    Mutations in the muscle chloride channel gene CLCN1 cause myotonia congenita, an inherited disorder of skeletal muscle excitability leading to a delayed relaxation after muscle contraction...
  7. Lueck J, Mankodi A, Swanson M, Thornton C, Dirksen R. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J Gen Physiol. 2007;129:79-94 pubmed
    Muscle degeneration and myotonia are clinical hallmarks of myotonic dystrophy type 1 (DM1), a multisystemic disorder caused by a CTG repeat expansion in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene...
  8. Wheeler T, Lueck J, Swanson M, Dirksen R, Thornton C. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest. 2007;117:3952-7 pubmed
    ..This constellation of features, collectively known as myotonia, is associated with abnormal alternative splicing of the muscle-specific chloride channel (ClC-1) and reduced ..
  9. Mankodi A, Takahashi M, Jiang H, Beck C, Bowers W, Moxley R, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 2002;10:35-44 pubmed
    ..RNAs that contain expanded CUG or CCUG repeats is associated with degeneration and repetitive action potentials (myotonia) in skeletal muscle...
  10. Kanadia R, Johnstone K, Mankodi A, Lungu C, Thornton C, Esson D, et al. A muscleblind knockout model for myotonic dystrophy. Science. 2003;302:1978-80 pubmed
    ..Our results support the hypothesis that manifestations of DM can result from sequestration of specific RNA binding proteins by a repetitive element expansion in a mutant RNA. ..
  11. Lin X, Miller J, Mankodi A, Kanadia R, Yuan Y, Moxley R, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet. 2006;15:2087-97 pubmed
    ..Sequestration of MBNL1, and failure to maintain these splicing transitions, has a pivotal role in the pathogenesis of muscle disease in DM. ..
  12. Lueck J, Lungu C, Mankodi A, Osborne R, Welle S, Dirksen R, et al. Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol. 2007;292:C1291-7 pubmed
    ..Both effects result from modulation of chloride channel 1 (CLCN1) expression, but the respective contributions of transcriptional vs...
  13. Klocke R, Steinmeyer K, Jentsch T, Jockusch H. Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle. J Biol Chem. 1994;269:27635-9 pubmed
    ..These findings suggest that the activity-dependent regulation of the muscular chloride channel 1 gene is mediated by myogenic factors.
  14. Gurnett C, Kahl S, Anderson R, Campbell K. Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice. J Biol Chem. 1995;270:9035-8 pubmed
    ..Mutations in the ClC-1 gene are responsible for both human autosomal recessive generalized myotonia and autosomal dominant myotonia congenita...
  15. Ryan A, Schelling C, Womack J, Gallagher D. Chromosomal assignment of six muscle-specific genes in cattle. Anim Genet. 1997;28:84-7 pubmed
    ..Smooth muscle caldesmon (CALD1) and the skeletal muscle chloride channel gene (CLCN1) were 100% concordant with BTA 4...
  16. Willmann R, Kusch J, Sultan K, Schneider A, Pette D. Muscle LIM protein is upregulated in fast skeletal muscle during transition toward slower phenotypes. Am J Physiol Cell Physiol. 2001;280:C273-9 pubmed
    ..High amounts of MLP mRNA and protein were also present in fast muscles of the myotonic, hyperactive ADR mouse...
  17. Watkins W, Watts D. Biological features of the new A2G--adr mouse mutant with abnormal muscle function. Lab Anim. 1984;18:1-6 pubmed
    A new mouse mutant (A2G-adr) with abnormal muscle function is described and has been compared with the 129 Re dystrophic mouse...
  18. Goblet C, Whalen R. Modifications of gene expression in myotonic murine skeletal muscle are associated with abnormal expression of myogenic regulatory factors. Dev Biol. 1995;170:262-73 pubmed
    The mouse mutants ADR ("arrested development of righting") and the allelic CRP ("cramp") are characterized by a myotonic phenotype resulting from a dysfunction of the skeletal muscle chloride channel which leads to ..
  19. Chen W, Wang Y, Abe Y, Cheney L, Udd B, Li Y. Haploinsuffciency for Znf9 in Znf9+/- mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol. 2007;368:8-17 pubmed
    ..Znf9 is normally highly expressed in heart and skeletal muscle, where skeletal muscle chloride channel 1 (Clc1) plays an important role. Clc1 expression was dramatically decreased in Znf9+/- mice...
  20. Watkins J, Watts R, Watts D. Deficiency of fructose 1,6-bisphosphate aldolase in type-II muscle fibres of the A2G-adr mouse mutant with abnormal muscle function [proceedings]. Biochem Soc Trans. 1979;7:907-8 pubmed
  21. Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Grunder S, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature. 1991;354:304-8 pubmed
    b>MYOTONIA (stiffness and impaired relaxation of skeletal muscle) is a symptom of several diseases caused by repetitive firing of action potentials in muscle membranes...
  22. Gallego Llamas J, Timms A, Geister K, Lindsay A, Beier D. Variant mapping and mutation discovery in inbred mice using next-generation sequencing. BMC Genomics. 2015;16:913 pubmed publisher
    ..As expected, the WGS strategy was more reliable, since many more ENU-induced variants were ascertained. ..
  23. Shirakawa T, Sakai K, Kitagawa Y, Hori A, Hirose G. A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A. Neurology. 2002;59:1091-4 pubmed
    The authors report a new murine model for myotonia congenita designated as B6MT. This line spontaneously arose from breeding of transgenic C57BL/6CrSlc mice, irrelevant of the transgene...
  24. Heller A, Eicher E, Hallett M, Sidman R. Myotonia, a new inherited muscle disease in mice. J Neurosci. 1982;2:924-33 pubmed
    Electromyographic (EMG) and histological studies were carried out with the new mouse mutant myotonia (mto, autosomal recessive). Affected animals exhibited behavioral myotonia which was apparent at 2 weeks of age...
  25. Heimann P, Augustin M, Wieneke S, Heising S, Jockusch H. Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants. Neuromuscul Disord. 1998;8:551-60 pubmed
    For Duchenne muscular dystrophy (DMD, dystrophin deficiency) and Thomsen/Becker myotonia (muscular chloride channel deficiency) genetically homologous mouse models are available, the dystrophin-deficient MDX mouse and the myotonic ADR ..
  26. Choi J, Personius K, DiFranco M, Dansithong W, Yu C, Srivastava S, et al. Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation. EBioMedicine. 2015;2:1034-47 pubmed publisher
    Loss of Muscleblind-like 1 (Mbnl1) is known to alter Clc-1 splicing to result in myotonia. Mbnl1(ΔE3/ΔE3)/Mbnl3(ΔE2) mice, depleted of Mbnl1 and Mbnl3, demonstrate a profound enhancement of myotonia and an increase in the ..
  27. Schleef M, Zuhlke C, Schöffl F, Jockusch H. Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse. Neuromuscul Disord. 1994;4:205-17 pubmed
    In myotonic ADR mice that are homozygous for a defect in the muscular chloride channel gene adr/Clc-1, the hyperexcitability of fast muscles is associated with secondary changes in gene expression and fibre type composition...
  28. Wang X, Li Y, Engisch K, Nakanishi S, Dodson S, Miller G, et al. Activity-dependent presynaptic regulation of quantal size at the mammalian neuromuscular junction in vivo. J Neurosci. 2005;25:343-51 pubmed
    ..We propose that presynaptic activity modulates quantal size at the neuromuscular junction by modulating the amount of acetylcholine released from vesicles. ..
  29. Waters C, Varuzhanyan G, Talmadge R, Voss A. Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction. Proc Natl Acad Sci U S A. 2013;110:9160-5 pubmed publisher
    ..ClC-1, in Huntington disease muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA. Additionally, the total Kcnj2 (gene for the Kir2...
  30. Burge J, Hanna M, Schorge S. Nongenomic actions of progesterone and 17?-estradiol on the chloride conductance of skeletal muscle. Muscle Nerve. 2013;48:589-91 pubmed publisher
    b>Myotonia congenita, caused by mutations in ClC-1, tends to be more severe in men and is often exacerbated by pregnancy...
  31. van Lunteren E, Moyer M, Pollarine J. Genetic CLC-1 chloride channel deficiency modifies diaphragm muscle isometric contractile properties. Respir Physiol Neurobiol. 2007;155:220-6 pubmed
    Genetic deficiency of the muscle chloride channel CLC-1 leads to myotonia congenita in humans as well as myotonia in mice and goats...
  32. Oana K, Oma Y, Suo S, Takahashi M, Nishino I, Takeda S, et al. Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice. Sci Rep. 2013;3:2142 pubmed publisher
    ..Mutant transcripts containing expanded CUG repeats lead to aberrant regulation of alternative splicing. Myotonia (delayed muscle relaxation) is the most commonly observed symptom in DM1 patients and is caused by aberrant ..
  33. Jockusch H, Bertram K, Schenk S. The genes for two neuromuscular diseases of the mouse, 'arrested development of righting response', adr, and 'myotonia', mto, are allelic. Genet Res. 1988;52:203-5 pubmed
  34. Füchtbauer E, Bertram K, Jockusch H. Analysis of donor and host contributions to regenerated muscle grafts in the mouse. Monogr Dev Biol. 1988;21:64-9 pubmed
  35. Gladman J, Yadava R, Mandal M, Yu Q, Kim Y, Mahadevan M. NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity. Hum Mol Genet. 2015;24:251-64 pubmed publisher
    ..Using mouse models of Nkx2-5 over-expression and depletion, we find that NKX2-5 levels modify disease phenotypes in mice with RNA toxicity. ..
  36. Osborne R, Lin X, Welle S, Sobczak K, O Rourke J, Swanson M, et al. Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Hum Mol Genet. 2009;18:1471-81 pubmed publisher
    ..A gene that is prominently affected encodes chloride channel 1 (Clcn1), resulting in hyperexcitability of muscle (myotonia)...
  37. DiFranco M, Yu C, Quiñonez M, Vergara J. Age-dependent chloride channel expression in skeletal muscle fibres of normal and HSA(LR) myotonic mice. J Physiol. 2013;591:1347-71 pubmed publisher
    ..surmise that while hyperexcitability in young HSA(LR) mice can be readily explained on the basis of reduced gCl, myotonia in adult HSA(LR) animals may be explained on the basis of a mosaic expression of ClC-1 channels in different ..
  38. Soothill P, Kouseibati F, Watts R, Watts D. Glycolytic, pentose-phosphate shunt and transaminase enzymes in gastrocnemius muscle, liver, heart, and brain of two mouse mutants, 129 J-dy and A2g-adr, with abnormal muscle function. J Neurochem. 1981;37:506-10 pubmed
    ..and phosphoglycerate kinase activity were markedly reduced in muscle from two mouse mutants, 129 J-dy and A2G-adr, with abnormal muscle development...
  39. Ganser A, Kerner A, Brown B, Davisson M, Kirschner D. A survey of neurological mutant mice. II. Lipid composition of myelinated tissue in possible myelin mutants. Dev Neurosci. 1988;10:123-40 pubmed
    ..wl/wl CNS showed decreases among most of the glycolipids. Mutants homozygous for du, mto, spa and tg had virtually normal lipid levels in both the optic and peripheral nerves...
  40. Kluxen F, Schöffl F, Berchtold M, Jockusch H. Opposite regulation of the mRNAs for parvalbumin and p19/6.8 in myotonic mouse muscle. Eur J Biochem. 1988;176:153-8 pubmed
    The gene mutation in the mouse, 'arrested development of righting response', adr, causes a defect of chloride conductance of the muscle fibre membrane leading to the symptoms of myotonia [Mehrke, G., Brinkmeier, H. and Jockusch, H...
  41. van Lunteren E, Pollarine J, Moyer M. Isotonic contractile impairment due to genetic CLC-1 chloride channel deficiency in myotonic mouse diaphragm muscle. Exp Physiol. 2007;92:717-29 pubmed
    ..These data indicate that genetic CLC-1 chloride channel deficiency in mice not only produces myotonia but also substantially worsens the isotonic contractile performance of diaphragm muscle.
  42. Jockusch H, Kaupmann K, Gronemeier M, Schleef M, Klocke R. Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia. Prog Neurobiol. 1994;42:313-7 pubmed
    ..In the case of the adr (arrested development of righting response) mouse, which shows hyperexcitability of mature muscle fibres due to a reduction of the '..
  43. Chamberlain C, Ranum L. Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum Mol Genet. 2012;21:4645-54 pubmed publisher
    ..Third, we show for the first time that early and long-term MBNL1 overexpression prevents CUG-induced myotonia, myopathy and alternative splicing abnormalities in DM1 mice...
  44. Gronemeier M, Condie A, Prosser J, Steinmeyer K, Jentsch T, Jockusch H. Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice. J Biol Chem. 1994;269:5963-7 pubmed
    ..Its functional defect leads to the disease myotonia. The ADR mouse (phenotype ADR, genotype adr/adr) is an animal model for human myotonias...
  45. Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, et al. Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics. 1994;21:428-30 pubmed
  46. Arnaiz I, Johnson M, Cook D, Day M. Changing expression of chloride channels during preimplantation mouse development. Reproduction. 2013;145:73-84 pubmed publisher
    ..mRNA transcripts for all Clcn genes were detected. Only Clcn1 mRNA showed differential expression in the blastocyst, being detected in the trophectoderm but not in the inner ..
  47. Költgen D, Brinkmeier H, Jockusch H. Myotonia and neuromuscular transmission in the mouse. Muscle Nerve. 1991;14:775-80 pubmed
    The role of neuromuscular transmission and acetylcholine receptors in the phenotypic expression of hereditary myotonia was reinvestigated in two mutants of the mouse, ADR (adr/adr) and MTO (adrmto/adrmto)...
  48. Lionikas A, Blizard D, Gerhard G, Vandenbergh D, Stout J, Vogler G, et al. Genetic determinants of weight of fast- and slow-twitch skeletal muscle in 500-day-old mice of the C57BL/6J and DBA/2J lineage. Physiol Genomics. 2005;21:184-92 pubmed
    ..In summary, muscle weight in B6/D2 lineage is affected by a polygenic system that has variable influences at different ages, between males and females, and across muscles in a manner independent of muscle type. ..
  49. Jockusch H, Reininghaus J, Stuhlfauth I, Zippel M. Reduction of myosin-light-chain phosphorylation and of parvalbumin content in myotonic mouse muscle and its reversal by tocainide. Eur J Biochem. 1988;171:101-5 pubmed
    In muscle of the myotonic mouse mutant, 'arrested development of righting response', ADR, a reduced level of fast-myosin-light-chain-2 (LC2f) phosphorylation was observed in addition to a lowered parvalbumin content...
  50. Makałowski W, Zhang J, Boguski M. Comparative analysis of 1196 orthologous mouse and human full-length mRNA and protein sequences. Genome Res. 1996;6:846-57 pubmed
    ..Also, they should prove useful in estimating the additional sampling diversity provided by mouse EST sequencing projects designed to complement the existing human cDNA collection. ..
  51. Mehrke G, Brinkmeier H, Jockusch H. The myotonic mouse mutant ADR: electrophysiology of the muscle fiber. Muscle Nerve. 1988;11:440-6 pubmed
    The hereditary neuromuscular syndrome of the mouse, "arrested development of righting response" (ADR), is characterized by after-contractions of skeletal muscle...
  52. Chen M, Niggeweg R, Iaizzo P, Lehmann Horn F, Jockusch H. Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage. J Physiol. 1997;504 ( Pt 1):75-81 pubmed
    ..to less than 10% of that of wild-type, and this causes hyperexcitability, the salient feature of the disease myotonia. Potassium conductance (GK) values in myotonic mouse muscle fibres are lowered by about 60% compared with wild-..
  53. Lueck J, Rossi A, Thornton C, Campbell K, Dirksen R. Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle. J Gen Physiol. 2010;136:597-613 pubmed publisher
    ..in adult skeletal muscle of a mouse model of myotonic dystrophy type 1 resulted in a significant reduction in myotonia and localization of channels to the sarcolemma...
  54. Cacic M, Sostarić K, Weber Schürholz S, Muthing J. Immunohistological analyses of neutral glycosphingolipids and gangliosides in normal mouse skeletal muscle and in mice with neuromuscular diseases. Glycoconj J. 1995;12:721-8 pubmed
    ..Mice with neuromuscular diseases were the A2G-adr mouse mutant (a model for human recessive myotonia of Becker type), the BL6-wr mutant (a model for motor neuron disease) and the BL10-mdx mouse mutant (a model for ..
  55. Wang X, Engisch K, Teichert R, Olivera B, Pinter M, Rich M. Prolongation of evoked and spontaneous synaptic currents at the neuromuscular junction after activity blockade is caused by the upregulation of fetal acetylcholine receptors. J Neurosci. 2006;26:8983-7 pubmed
    ..This might occur if acetylcholine escapes from endplates and binds to extrajunctional fetal-type AChRs only during large, evoked EPCs. Our study is the first to demonstrate a functional role for upregulation of extrajunctional AChRs. ..
  56. Stuhlfauth I, Reininghaus J, Jockusch H, Heizmann C. Calcium-binding protein, parvalbumin, is reduced in mutant mammalian muscle with abnormal contractile properties. Proc Natl Acad Sci U S A. 1984;81:4814-8 pubmed
    ..In one of these, "arrested development of righting response" (adr), the concentration of the soluble Ca2+-binding protein parvalbumin was drastically ..
  57. Füchtbauer E, Reininghaus J, Jockusch H. Developmental control of the excitability of muscle: transplantation experiments on a myotonic mouse mutant. Proc Natl Acad Sci U S A. 1988;85:3880-4 pubmed
    Developmental aspects of an animal model of myotonia, the mouse mutant called "arrested development of righting response" (ADR phenotype), were studied...
  58. Schimmelpfeng J, Jockusch H, Heimann P. Increased density of satellite cells in the absence of fibre degeneration in muscle of myotonic mice. Cell Tissue Res. 1987;249:351-7 pubmed
    A mutant mouse with a hereditary myotonia, 'arrested development of righting response', ADR, was investigated with respect to mononucleated cell populations in skeletal muscle...
  59. Schnülle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch J. The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mamm Genome. 1997;8:718-25 pubmed
    ..The exon/intron organization is highly homologous to that of the human CLCN1 gene; the homology of the coding sequence is 97% to rat and 89% to human...
  60. Kramer R, Lochmuller H, Abicht A, Rudel R, Brinkmeier H. Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice. Neuromuscul Disord. 1998;8:542-50 pubmed
    ..genetic defects: the dystrophin-deficiency of the MDX mouse and the Cl- channel myotonia of the arrested development of righting response (ADR) mouse...
  61. Gladman J, Mandal M, Srinivasan V, Mahadevan M. Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1). PLoS ONE. 2013;8:e72907 pubmed publisher
    ..we found that by two weeks after birth, mice reproduced cardinal features of myotonic dystrophy, including myotonia, cardiac conduction abnormalities, muscle weakness, histopathology and mRNA splicing defects...
  62. Koscianska E, Witkos T, Kozlowska E, Wojciechowska M, Krzyzosiak W. Cooperation meets competition in microRNA-mediated DMPK transcript regulation. Nucleic Acids Res. 2015;43:9500-18 pubmed publisher
  63. Reininghaus J, Füchtbauer E, Bertram K, Jockusch H. The myotonic mouse mutant ADR: physiological and histochemical properties of muscle. Muscle Nerve. 1988;11:433-9 pubmed
    ..muscle physiology and histochemistry of a hereditary neuromuscular syndrome of the mouse, "arrested development of righting response" (ADR), was studied...
  64. Carrell S, Carrell E, Auerbach D, Pandey S, Bennett C, Dirksen R, et al. Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice. Hum Mol Genet. 2016;25:4328-4338 pubmed publisher
    ..The imposition of cardiac stress by pressure overload, or muscle stress by myotonia, did not unmask a requirement for DMPK...