LOCUS       NM_013491               4667 bp    mRNA    linear   ROD 08-FEB-2025
DEFINITION  Mus musculus chloride channel, voltage-sensitive 1 (Clcn1),
            transcript variant 1, mRNA.
ACCESSION   NM_013491
VERSION     NM_013491.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4667)
  AUTHORS   Yarotskyy,V., Contois,L., Hahn,Y.K., Nass,S.R., Knapp,P.E. and
            Hauser,K.F.
  TITLE     Novel voltage-dependent Cl- channels in striatal medium spiny
            neurons are unrelated to ClC-1 or other known Ca2+-induced Cl-
            channel/transporter types
  JOURNAL   Neurosci Lett 844, 138032 (2025)
   PUBMED   39491780
REFERENCE   2  (bases 1 to 4667)
  AUTHORS   Wang,X., Dupont,C., Grant,D., Voss,A.A. and Rich,M.M.
  TITLE     Plateau potentials contribute to myotonia in mouse models of
            myotonia congenita
  JOURNAL   Exp Neurol 361, 114303 (2023)
   PUBMED   36563835
REFERENCE   3  (bases 1 to 4667)
  AUTHORS   Rios,J.J., Denton,K., Yu,H., Manickam,K., Garner,S., Russell,J.,
            Ludwig,S., Rosenfeld,J.A., Liu,P., Munch,J., Sucato,D.J.,
            Beutler,B. and Wise,C.A.
  TITLE     Saturation mutagenesis defines novel mouse models of severe spine
            deformity
  JOURNAL   Dis Model Mech 14 (6) (2021)
   PUBMED   34142127
REFERENCE   4  (bases 1 to 4667)
  AUTHORS   Myers,J.H., Denman,K., DuPont,C., Hawash,A.A., Novak,K.R.,
            Koesters,A., Grabner,M., Dayal,A., Voss,A.A. and Rich,M.M.
  TITLE     The mechanism underlying transient weakness in myotonia congenita
  JOURNAL   Elife 10, e65691 (2021)
   PUBMED   33904400
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4667)
  AUTHORS   Tanner,M.K., Tang,Z. and Thornton,C.A.
  TITLE     Targeted splice sequencing reveals RNA toxicity and therapeutic
            response in myotonic dystrophy
  JOURNAL   Nucleic Acids Res 49 (4), 2240-2254 (2021)
   PUBMED   33503262
REFERENCE   6  (bases 1 to 4667)
  AUTHORS   Steinmeyer,K., Klocke,R., Ortland,C., Gronemeier,M., Jockusch,H.,
            Grunder,S. and Jentsch,T.J.
  TITLE     Inactivation of muscle chloride channel by transposon insertion in
            myotonic mice
  JOURNAL   Nature 354 (6351), 304-308 (1991)
   PUBMED   1659665
REFERENCE   7  (bases 1 to 4667)
  AUTHORS   Steinmeyer,K., Ortland,C. and Jentsch,T.J.
  TITLE     Primary structure and functional expression of a developmentally
            regulated skeletal muscle chloride channel
  JOURNAL   Nature 354 (6351), 301-304 (1991)
   PUBMED   1659664
REFERENCE   8  (bases 1 to 4667)
  AUTHORS   Koltgen,D., Brinkmeier,H. and Jockusch,H.
  TITLE     Myotonia and neuromuscular transmission in the mouse
  JOURNAL   Muscle Nerve 14 (8), 775-780 (1991)
   PUBMED   1653899
REFERENCE   9  (bases 1 to 4667)
  AUTHORS   Mehrke,G., Brinkmeier,H. and Jockusch,H.
  TITLE     The myotonic mouse mutant ADR: electrophysiology of the muscle
            fiber
  JOURNAL   Muscle Nerve 11 (5), 440-446 (1988)
   PUBMED   2453798
REFERENCE   10 (bases 1 to 4667)
  AUTHORS   Watkins,J., Watts,R.L. and Watts,D.C.
  TITLE     Deficiency of fructose 1,6-bisphosphate aldolase in type-II muscle
            fibres of the A2G-adr mouse mutant with abnormal muscle function
            [proceedings]
  JOURNAL   Biochem Soc Trans 7 (5), 907-908 (1979)
   PUBMED   510737
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC153915.5.
            
            On Jul 20, 2022 this sequence version replaced NM_013491.3.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK036735.1, BC114336.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN01766820
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-281               AC153915.5         98320-98600         c
            282-402             AC153915.5         95073-95193         c
            403-534             AC153915.5         94548-94679         c
            535-663             AC153915.5         93809-93937         c
            664-797             AC153915.5         93508-93641         c
            798-875             AC153915.5         92248-92325         c
            876-954             AC153915.5         91110-91188         c
            955-1080            AC153915.5         86342-86467         c
            1081-1165           AC153915.5         85944-86028         c
            1166-1267           AC153915.5         85665-85766         c
            1268-1352           AC153915.5         85277-85361         c
            1353-1502           AC153915.5         84889-85038         c
            1503-1572           AC153915.5         79951-80020         c
            1573-1683           AC153915.5         79685-79795         c
            1684-1897           AC153915.5         77971-78184         c
            1898-2031           AC153915.5         77607-77740         c
            2032-2264           AC153915.5         75093-75325         c
            2265-2403           AC153915.5         74601-74739         c
            2404-2483           AC153915.5         74264-74343         c
            2484-2522           AC153915.5         74016-74054         c
            2523-2627           AC153915.5         72108-72212         c
            2628-2714           AC153915.5         71942-72028         c
            2715-4667           AC153915.5         69507-71459         c
FEATURES             Location/Qualifiers
     source          1..4667
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 20.57 cM"
     gene            1..4667
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /note="chloride channel, voltage-sensitive 1"
                     /db_xref="GeneID:12723"
                     /db_xref="MGI:MGI:88417"
     exon            1..281
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..3086
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /note="chloride channel protein, skeletal muscle; arrested
                     development of righting response"
                     /codon_start=1
                     /product="chloride channel protein 1"
                     /protein_id="NP_038519.1"
                     /db_xref="CCDS:CCDS39471.1"
                     /db_xref="GeneID:12723"
                     /db_xref="MGI:MGI:88417"
                     /translation="MERSQSQRHGGEQSWWGSAPQYQYMPFEHCTSYGLPSENGGLQH
                     RPRKDMGPRHNAHPTQIYGHQKEQYSYKAQDGGMPKKMGSSSTMDSLDEDHYSKCQDC
                     VHRLGRVLRRKLGEDWIFLVLLGLLMALVSWCMDYVSAKSLQAYKWTYAQMKPSLPLQ
                     YLAWVTFPLILILFSALFCQLISPQAVGSGIPEMKTILRGVVLKEYLTLKAFVAKVVA
                     LTAGLGSGIPVGKEGPFVHIASICAAVLSKFMSMFSGVYEQPYYYTDILTVGCAVGVG
                     CCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLAVWNKDAVTITALFR
                     TNFRMDFPFDLKELPAFAVIGICCGFLGAVFVYLHRQVMLGVRKHKCLSQFLAKHRLL
                     YPGIVTFVIASLTFPPGMGQFMAGELMPREAISTLFDNNTWVKHIGDPQSLGQSAVWL
                     HPQVNVIIIILLFFVMKFWMSIVATTMPIPCGGFMPVFVLGAAFGRLVGEIMAMLFPE
                     GILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMMVAVILA
                     NMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKFTIFVEDIMVRDVKFVSASCTYGE
                     LRNLLQATTVKTLPLVDSKDSMILLGSVERSELQSLLQRHLCAERRLKAAQDMARKLS
                     ELPYNGKAQLAGDWHPGGRPESFAFVDEDEDEDLSRKMELPLTPAPPPPSPPPPPSQF
                     PIAPSNPEEPNGPLPSHKQPPEASDSADQRSSTFQRLLHCLLGKAHSKKKKITQDSTD
                     LVDNMSPEEIEAWEREQLSQPVCFDCCCIDQSPFQLVEQTTLHKTHTLFSLLGLHLAY
                     VTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSIRKTPGGPPPPAEGWN
                     VPEDGDGAPGREVMVPTMPETPVPPPSPEAPSCLAPARAEGELEELEMVGSLEPEEEL
                     ADILHGPSLRSTDEEDEDELIL"
     exon            282..402
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            403..534
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            535..663
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            664..797
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            798..875
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            876..954
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1080
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1165
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1267
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1352
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1502
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1572
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1573..1683
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1897
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1898..2031
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2032..2264
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2265..2403
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2404..2483
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2484..2522
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2523..2627
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2628..2714
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2715..4667
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4645..4650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /note="hexamer: AATAAA"
     polyA_site      4667
                     /gene="Clcn1"
                     /gene_synonym="adr; Clc-1; Clc1; mto; myotonia; nmf355;
                     SMCC1"
                     /note="major polyA site"
ORIGIN      
        1 agacgccttg gggacagtca aaagcagagg cttaaggagc tacttggggg agactaggag
       61 caagcaggcc aaggcctggc tggggcttgg ggggagaaca catggagcgg tcccagtccc
      121 agcggcatgg aggggaacag agctggtggg gcagtgcccc ccagtaccag tacatgccct
      181 ttgaacattg taccagctac ggactgccct cagagaatgg gggccttcag caccggcccc
      241 gaaaggacat gggtcccagg cacaatgccc acccaacaca gatatatggc catcaaaaag
      301 aacaatattc atataaggca caggacgggg gaatgcccaa gaagatgggc tccagttcta
      361 ccatggacag cttggatgag gaccactatt ctaaatgtca agactgtgtc catcgcctgg
      421 gacgtgtgct gagaaggaag ctgggggaag attggatctt tcttgtgctc ctgggcctcc
      481 tgatggctct agtcagctgg tgcatggact atgttagtgc caagagcctt caggcctaca
      541 agtggaccta tgcccagatg aagcctagcc ttcctctgca gtacctggcc tgggtcacct
      601 tcccacttat cctgatcctc ttcagcgccc tcttttgcca actcatctct ccccaggctg
      661 tgggctctgg aatccctgag atgaaaacaa ttcttcgtgg tgttgtcttg aaggaatacc
      721 tcacactcaa ggcctttgta gccaaggtgg tagctttgac agctggactg ggcagtggca
      781 tccctgtggg gaaagagggt ccctttgttc acatcgccag catctgtgct gctgtcctca
      841 gcaagtttat gtccatgttc tctggtgtct atgagcagcc atactattac actgacatcc
      901 tgacagtggg ctgtgccgtg ggggtcggtt gctgttttgg aacaccactt ggaggagtgc
      961 tatttagcat cgaggtcacc tctacctact ttgctgttcg gaattactgg cgaggattct
     1021 ttgcagccac attcagtgcc tttgtgttcc gtgtcctggc cgtttggaac aaggatgctg
     1081 tcaccatcac tgctctgttc agaacgaatt tccgaatgga tttccccttt gacctgaagg
     1141 aactcccagc ttttgctgtc attgggattt gctgcgggtt cttgggagct gttttcgttt
     1201 atctgcatcg ccaagtcatg ctcggtgtcc gaaagcacaa gtgtctcagc caatttcttg
     1261 ctaagcaccg cctgctatat cctggaattg ttacctttgt catcgcctcg ctcacatttc
     1321 caccaggaat gggtcaattc atggctggag agctgatgcc ccgtgaagct atcagtaccc
     1381 tctttgacaa caacacatgg gtaaagcaca taggtgaccc ccaaagcttg ggccagtcag
     1441 ctgtgtggct tcacccccag gtcaacgtga tcatcatcat ccttctcttc ttcgttatga
     1501 agttttggat gtccattgta gccaccacta tgcccatacc ctgtggaggc ttcatgcctg
     1561 tttttgtgct aggagctgca tttggaaggc tggtaggaga gatcatggcc atgctattcc
     1621 ctgagggtat cttatttgat gatatcatct ataagatctt acctgggggc tatgcagtaa
     1681 ttggagcagc agctttgaca ggggctgtct cccacacagt ctccacagcc gtcatttgct
     1741 tcgaattaac cggtcagatt gctcacatcc tgcccatgat ggtggctgtt atcttggcca
     1801 acatggtggc tcagagtctg cagccctccc tctatgacag catcatccag gtcaagaagc
     1861 ttccctatct gccagacctt ggttggaacc agctcagcaa atttacaatt tttgttgagg
     1921 acatcatggt acgtgatgtg aagttcgttt cagcttcttg tacatatggg gaactgagaa
     1981 acctactcca ggccaccaca gtcaagactt taccattggt tgactccaaa gattcaatga
     2041 tcctgctggg ctctgtggaa cgctcagaac tgcagtccct cctgcagcgc cacctgtgtg
     2101 cagagcgaag gttgaaggct gcccaggaca tggctcgaaa gttatcagag ctgccttata
     2161 atggcaaggc tcagctggct ggggactggc atcctggtgg tcgacctgag tcctttgcct
     2221 tcgtagatga agatgaagat gaggacctct ccaggaagat ggagcttcca ctgactccag
     2281 ctcctccccc tccttcccct cctcctccac cttcccagtt tcctattgct ccatcaaacc
     2341 ctgaagaacc taatgggcca ctgcccagcc ataaacagcc acctgaagcc tcagactctg
     2401 cagatcaaag atcatccacc ttccaacgcc tgctgcactg cttgctagga aaagctcact
     2461 ccaaaaagaa gaaaataaca caggattcaa cagatttagt ggataacatg tcacctgaag
     2521 agattgaggc ctgggagcgg gagcagctga gccagcctgt gtgctttgat tgctgctgca
     2581 tcgaccagtc tcccttccag ctggtggagc agacaaccct gcacaagact catacactct
     2641 tctcacttct tggcctccat cttgcctatg tgaccagcat ggggaagctc agaggtgtct
     2701 tggcactaga agagctacag aaagctattg agggccacac caaatctggg gtgcagcttc
     2761 gccctccact tgccagcttc cggaatacaa cttcaatccg gaagactcct ggggggccac
     2821 cccctcctgc agagggctgg aatgtacctg aggatggaga tggggctcct ggaagagaag
     2881 tcatggttcc taccatgcca gagactcctg tcccaccacc atctccagag gccccttcct
     2941 gcctggcccc agccagagcg gagggtgagc tggaggaact ggagatggtg gggagcctag
     3001 agcctgagga ggagctggct gacatcttgc atggccccag tctgcggtcc actgatgagg
     3061 aagatgagga cgagctgatc ctgtgaacaa ccccctctat gccttcttct taaaaaccac
     3121 agggcccatg tcagagagtg gacgtgtatg tgatatggag aggcctccac ttcatcttct
     3181 tcctaccacc actgtgaaag gtgatggtga taatcttaag gagaacttga tcttgggcag
     3241 ggaagaattt gggtccatca gacctccccc cgccaccccc catttccatg cttaaaggac
     3301 tcttgtgttt tcctgctgtg caggttcagt ccctatcact ctaaagcccc acagttccca
     3361 gtgttcagtc accatcctgg ccctgcctgt ttatattcag tttccatacg gagtaggtga
     3421 gtggaggtcc atattggatg aatctgcaag tgtcacattg gaagggaatg tgggaccaca
     3481 atattgccat gtggattgac taccctaaaa tgtgtcccca agtctgccag tcctgtgtgc
     3541 tctccaaaat ctgtcttaga ccccatcagt gctgccattg tctgtttcca ggccaagccc
     3601 atatcggggc tgaaaaggcc aacccttatt tccgaggaac caagtgcagt tcccccggga
     3661 agaggttgag gtaagctttg tctggtgagg caggtgtcag acccctgcag cagaaagctc
     3721 tagtccttat ccctggcgct ctgcctagtt ctatgttaca cctagaacat gcttctttcc
     3781 ttccgcccac tggagtggct aacttagcct gccaagagtc acctctgcct tggggccact
     3841 cttgctagag ctcctcccaa atcacaccaa ggctctcgtg ccacagtggg gaatgcagat
     3901 tccagtcctt tccagtcctt ccagctcctt gcacccttga cttggcaagc tttagtttac
     3961 tccactctta gaggagtttt ccttccaaac cagcaaggcg ctcaatagcc atgctgtatg
     4021 gcattagcct gcttaaccta gaaccatatg ccaggtgctg tgggcattca gactctctgc
     4081 tccatttggg ggctctttct gcccctcact atatactttt agctctgtag ttgagccctc
     4141 atatattctc ccagttctgc cccccccccc attcccaggt ttcttctgtc ccccaaataa
     4201 gacactcata gtcaaaggat gccaccacat tctgtttagt gttgttccac acagcctctg
     4261 gccttctcca acatgggctc cttccaccaa ccaaggctaa gacattgagg cctaggtagg
     4321 aggattagca gggggcttcc aagcccatgc ccatgtgtat ataatctata atacttatat
     4381 atatttatat agaattctct ctgtaatata tgtcatagac tccttcctgg gcctggggtg
     4441 agagtttcac attaagaaaa catgctaaga ctgaccataa aaatgggtat ttctcagacc
     4501 tggaagacag agtgtgggat atatatggac aagggtaaga acttgtcctt cacgattcct
     4561 ttcttaacac aaggaaaaga agggaggtat gtgggctggg ggaggcaatg gaagggaagg
     4621 aatggaaggt ttggattttc atttaataaa gtcaattgaa aatgaaa
//
