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Search results 1 to 100 out of 271 for Clcn1

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0.044s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein
Organism: Mus musculus/domesticus
Length: 63  
Fragment?: true
Publication      
First Author: Harris B
Year: 2008
Journal: MGI Direct Data Submission
Title: Myotonia 9 Jackson; a new mutation in the Clcn1 gene
Publication  
First Author: Oana K
Year: 2013
Journal: Sci Rep
Title: Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice.
Volume: 3
Pages: 2142
Publication
First Author: Goblet C
Year: 1995
Journal: Dev Biol
Title: Modifications of gene expression in myotonic murine skeletal muscle are associated with abnormal expression of myogenic regulatory factors.
Volume: 170
Issue: 2
Pages: 262-73
Publication  
First Author: Neumann P
Year: 1989
Journal: Mouse News Lett
Title: A new allele of adr
Volume: 83
Pages: 157
Publication      
First Author: Schroeder D
Year: 2007
Journal: MGI Direct Data Submission
Title: Myotonia 8 Jackson, a new mutation in Clcn1
Publication
First Author: Gronemeier M
Year: 1994
Journal: J Biol Chem
Title: Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.
Volume: 269
Issue: 8
Pages: 5963-7
Publication
First Author: Steinmeyer K
Year: 1991
Journal: Nature
Title: Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
Volume: 354
Issue: 6351
Pages: 304-8
Publication  
First Author: Jockusch H
Year: 1990
Journal: Mouse Genome
Title: Allelic mutations at the myotonia locus adr
Volume: 87
Pages: 72
Publication
First Author: Klocke R
Year: 1994
Journal: J Biol Chem
Title: Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle.
Volume: 269
Issue: 44
Pages: 27635-9
Publication
First Author: Heller AH
Year: 1982
Journal: J Neurosci
Title: Myotonia, a new inherited muscle disease in mice.
Volume: 2
Issue: 7
Pages: 924-33
Publication
First Author: van Lunteren E
Year: 2007
Journal: Respir Physiol Neurobiol
Title: Genetic CLC-1 chloride channel deficiency modifies diaphragm muscle isometric contractile properties.
Volume: 155
Issue: 3
Pages: 220-6
Publication  
First Author: Adkison L
Year: 1989
Journal: Mouse News Lett
Title: New alleles of "arrested development of righting response (adr)".
Volume: 84
Pages: 89-90
Publication
First Author: Jockusch H
Year: 1988
Journal: Genet Res
Title: The genes for two neuromuscular diseases of the mouse, 'arrested development of righting response', adr, and 'myotonia', mto, are allelic.
Volume: 52
Issue: 3
Pages: 203-5
Publication  
First Author: van Lunteren E
Year: 2011
Journal: Front Physiol
Title: Impaired Wheel Running Exercise in CLC-1 Chloride Channel-Deficient Myotonic Mice.
Volume: 2
Pages: 47
Publication
First Author: Watkins J
Year: 1979
Journal: Biochem Soc Trans
Title: Deficiency of fructose 1,6-bisphosphate aldolase in type-II muscle fibres of the A2G-adr mouse mutant with abnormal muscle function [proceedings].
Volume: 7
Issue: 5
Pages: 907-8
Publication
First Author: Wang X
Year: 2005
Journal: J Neurosci
Title: Activity-dependent presynaptic regulation of quantal size at the mammalian neuromuscular junction in vivo.
Volume: 25
Issue: 2
Pages: 343-51
Publication
First Author: Watkins WJ
Year: 1984
Journal: Lab Anim
Title: Biological features of the new A2G--adr mouse mutant with abnormal muscle function.
Volume: 18
Issue: 1
Pages: 1-6
Publication
First Author: Schimmelpfeng J
Year: 1987
Journal: Cell Tissue Res
Title: Increased density of satellite cells in the absence of fibre degeneration in muscle of myotonic mice.
Volume: 249
Issue: 2
Pages: 351-7
Publication
First Author: Mehrke G
Year: 1988
Journal: Muscle Nerve
Title: The myotonic mouse mutant ADR: electrophysiology of the muscle fiber.
Volume: 11
Issue: 5
Pages: 440-6
Publication
First Author: Jockusch H
Year: 1988
Journal: Eur J Biochem
Title: Reduction of myosin-light-chain phosphorylation and of parvalbumin content in myotonic mouse muscle and its reversal by tocainide.
Volume: 171
Issue: 1-2
Pages: 101-5
Publication
First Author: Gurnett CA
Year: 1995
Journal: J Biol Chem
Title: Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.
Volume: 270
Issue: 16
Pages: 9035-8
Publication
First Author: Soothill PW
Year: 1981
Journal: J Neurochem
Title: 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.
Volume: 37
Issue: 2
Pages: 506-10
Publication
First Author: Füchtbauer EM
Year: 1988
Journal: Proc Natl Acad Sci U S A
Title: Developmental control of the excitability of muscle: transplantation experiments on a myotonic mouse mutant.
Volume: 85
Issue: 11
Pages: 3880-4
Publication
First Author: Költgen D
Year: 1991
Journal: Muscle Nerve
Title: Myotonia and neuromuscular transmission in the mouse.
Volume: 14
Issue: 8
Pages: 775-80
Publication  
First Author: Jockusch H
Year: 1986
Journal: Mouse News Lett
Title: 'Arrested development of righting response' (adr) and 'myotonia' (mto) are allelic
Volume: 75
Pages: 19-20
Publication
First Author: Kimura T
Year: 2003
Journal: Neurosci Lett
Title: 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.
Volume: 347
Issue: 3
Pages: 191-5
Publication
First Author: Schnülle V
Year: 1997
Journal: Mamm Genome
Title: The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles.
Volume: 8
Issue: 10
Pages: 718-25
Publication
First Author: Krämer R
Year: 1998
Journal: Neuromuscul Disord
Title: Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice.
Volume: 8
Issue: 8
Pages: 542-50
Publication
First Author: Heimann P
Year: 1998
Journal: Neuromuscul Disord
Title: Mutual interference of myotonia and muscular dystrophy in the mouse: a study on ADR-MDX double mutants.
Volume: 8
Issue: 8
Pages: 551-60
Publication  
First Author: Jockusch H
Year: 1987
Journal: Mouse News Lett
Title: A cross involving "arrested development of righting response", adr, and "nude", nu.
Volume: 77
Pages: 111-112
Publication      
First Author: The Jackson Laboratory Office of Genetic Resources
Year: 2000
Journal: MGI Direct Data Submission
Title: Registry of Remutation at The Jackson Laboratory
Publication    
First Author: Myers JH
Year: 2021
Journal: Elife
Title: The mechanism underlying transient weakness in myotonia congenita.
Volume: 10
Publication
First Author: Osborne RJ
Year: 2009
Journal: Hum Mol Genet
Title: Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.
Volume: 18
Issue: 8
Pages: 1471-81
Publication
First Author: Waters CW
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.
Volume: 110
Issue: 22
Pages: 9160-5
Publication
First Author: Yadava RS
Year: 2020
Journal: Hum Mol Genet
Title: Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.
Volume: 29
Issue: 9
Pages: 1440-1453
Publication
First Author: Lueck JD
Year: 2007
Journal: Am J Physiol Cell Physiol
Title: Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.
Volume: 292
Issue: 4
Pages: C1291-7
Publication
First Author: Lueck JD
Year: 2007
Journal: J Gen Physiol
Title: Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.
Volume: 129
Issue: 1
Pages: 79-94
Publication
First Author: Dupont C
Year: 2020
Journal: Ann Neurol
Title: TRPV4 Antagonism Prevents Mechanically Induced Myotonia.
Volume: 88
Issue: 2
Pages: 297-308
Publication
First Author: Arnaiz I
Year: 2013
Journal: Reproduction
Title: Changing expression of chloride channels during preimplantation mouse development.
Volume: 145
Issue: 1
Pages: 73-84
Publication
First Author: Stuhlfauth I
Year: 1984
Journal: Proc Natl Acad Sci U S A
Title: Calcium-binding protein, parvalbumin, is reduced in mutant mammalian muscle with abnormal contractile properties.
Volume: 81
Issue: 15
Pages: 4814-8
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Mankodi A
Year: 2002
Journal: Mol Cell
Title: Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.
Volume: 10
Issue: 1
Pages: 35-44
Publication
First Author: Steinmeyer K
Year: 1991
Journal: Nature
Title: Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel.
Volume: 354
Issue: 6351
Pages: 301-4
Publication
First Author: Cho KH
Year: 2008
Journal: Toxicol Res
Title: Studies on N-Ethyl-N-nitrosourea Mutagenesis in BALB/c Mice.
Volume: 24
Issue: 1
Pages: 59-68
Publication
First Author: Wang X
Year: 2006
Journal: J Neurosci
Title: Prolongation of evoked and spontaneous synaptic currents at the neuromuscular junction after activity blockade is caused by the upregulation of fetal acetylcholine receptors.
Volume: 26
Issue: 35
Pages: 8983-7
Publication
First Author: DiFranco M
Year: 2013
Journal: J Physiol
Title: Age-dependent chloride channel expression in skeletal muscle fibres of normal and HSA(LR) myotonic mice.
Volume: 591
Issue: 5
Pages: 1347-71
Publication
First Author: Willmann R
Year: 2001
Journal: Am J Physiol Cell Physiol
Title: Muscle LIM protein is upregulated in fast skeletal muscle during transition toward slower phenotypes.
Volume: 280
Issue: 2
Pages: C273-9
Publication
First Author: Bryant SH
Year: 1971
Journal: J Physiol
Title: Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids.
Volume: 219
Issue: 2
Pages: 367-83
Publication
First Author: Reininghaus J
Year: 1988
Journal: Muscle Nerve
Title: The myotonic mouse mutant ADR: physiological and histochemical properties of muscle.
Volume: 11
Issue: 5
Pages: 433-9
Publication  
First Author: Füchtbauer EM
Year: 1988
Journal: Monogr Dev Biol
Title: Analysis of donor and host contributions to regenerated muscle grafts in the mouse.
Volume: 21
Pages: 64-9
Publication
First Author: Wischmeyer E
Year: 1993
Journal: Neuromuscul Disord
Title: Development of electrical myotonia in the ADR mouse: role of chloride conductance in myotubes and neonatal animals.
Volume: 3
Issue: 4
Pages: 267-74
Publication  
First Author: Chen MF
Year: 1997
Journal: J Physiol
Title: Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl- channel 1 gene dosage.
Volume: 504 ( Pt 1)
Pages: 75-81
Publication
First Author: Papponen H
Year: 2005
Journal: Exp Neurol
Title: Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel.
Volume: 191
Issue: 1
Pages: 163-73
GXD Expression      
Probe: MGI:3707814
Assay Type: RT-PCR
Annotation Date: 2007-05-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1733125
Stage: TS25
Assay Id: MGI:3708498
Age: embryonic day 17.5
Specimen Label: Fetus
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3707814
Assay Type: RT-PCR
Annotation Date: 2007-05-15
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1733127
Stage: TS27
Assay Id: MGI:3708498
Age: postnatal day 1
Specimen Label: Neonate
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3707814
Assay Type: RT-PCR
Annotation Date: 2007-05-15
Strength: Present
Sex: Male
Emaps: EMAPS:1733128
Stage: TS28
Assay Id: MGI:3708498
Age: postnatal week 5-8
Specimen Label: Adult
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:3707814
Assay Type: RT-PCR
Annotation Date: 2007-05-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610525
Stage: TS25
Assay Id: MGI:3709170
Age: embryonic day 17.5
Specimen Label: Fetus
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:3707814
Assay Type: RT-PCR
Annotation Date: 2007-05-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610527
Stage: TS27
Assay Id: MGI:3709170
Age: postnatal day 1
Specimen Label: Neonate
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:3707814
Assay Type: RT-PCR
Annotation Date: 2007-05-17
Strength: Present
Sex: Male
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3709170
Age: postnatal adult
Specimen Label: Adult
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Female
Emaps: EMAPS:3102528
Stage: TS28
Assay Id: MGI:6437784
Age: postnatal adult
Specimen Label: O
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360411
Stage: TS01
Assay Id: MGI:6437784
Age: embryonic day 0.5
Specimen Label: 1
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360422
Stage: TS02
Assay Id: MGI:6437784
Age: embryonic day 1.0
Specimen Label: 2
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360433
Stage: TS03
Assay Id: MGI:6437784
Age: embryonic day 2.0
Specimen Label: 4
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360443
Stage: TS03
Assay Id: MGI:6437784
Age: embryonic day 2.5
Specimen Label: 8
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360454
Stage: TS04
Assay Id: MGI:6437784
Age: embryonic day 3.0
Specimen Label: M
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360464
Stage: TS04
Assay Id: MGI:6437784
Age: embryonic day 3.5
Specimen Label: B
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:360354
Stage: TS04
Assay Id: MGI:6437784
Age: embryonic day 3.5
Specimen Label: B
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:160414
Stage: TS04
Assay Id: MGI:6437784
Age: embryonic day 3.5
Specimen Label: ICM
Detected: false
Specimen Num: 9
GXD Expression      
Probe: MGI:6437769
Assay Type: RT-PCR
Annotation Date: 2020-07-06
Strength: Present
Sex: Not Specified
Emaps: EMAPS:160464
Stage: TS04
Assay Id: MGI:6437784
Age: embryonic day 3.5
Specimen Label: T
Detected: true
Specimen Num: 10
GXD Expression      
Probe: MGI:7507622
Assay Type: RT-PCR
Annotation Date: 2023-07-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598827
Stage: TS27
Assay Id: MGI:7507623
Age: postnatal day 1
Specimen Label: WT
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7507622
Assay Type: RT-PCR
Annotation Date: 2023-07-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598827
Stage: TS27
Assay Id: MGI:7507623
Age: postnatal day 1
Specimen Label: WT
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7507622
Assay Type: RT-PCR
Annotation Date: 2023-07-17
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598827
Stage: TS27
Assay Id: MGI:7507623
Age: postnatal day 1
Specimen Label: WT
Detected: true
Specimen Num: 3