Strain Name:

SWR/J-Clcn1adr-mto/J

Stock Number:

000939

Availability:

Cryopreserved - Ready for recovery

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
Generation+N1

Appearance
albino, myotonia
Related Genotype: A/A Tyrc/Tyrc Clcn1adr-mto/Clcn1adr-mto

albino, non-myotonic (unaffected)
Related Genotype: A/A Tyrc/Tyrc +/? or A/A Tyrc/Tyrc Clcn1adr-mto/+

Important Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.

Description
Mice homozygous for the myotonia spontaneous mutations exhibit classical myotonia similar to that described in human myotonic diseases. Homozygotes are recognizable at 2 weeks of age or earlier by prolonged, stiff extension postures of the limbs when the cage is shaken or the mouse is dropped from about 10 cm. This behavior persists throughout life. When undisturbed, affected animals walk almost normally, although somewhat stiffly. They grow more slowly and weigh about 40% less than controls in adulthood. Electromyographic studies revealed changes characteristic of myotonia. These discharges do not originate in peripheral nerves, and there is no evidence of muscle fiber necrosis.

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Pde6brd1 allele
004202   B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J
000002   B6.C3-Pde6brd1 Hps4le/J
001022   B6C3FeF1/J a/a
000652   BDP/J
000653   BUB/BnJ
002439   C3.129P2(B6)-B2mtm1Unc/J
005494   C3.129S1(B6)-Grm1rcw/J
000509   C3.Cg-Lystbg-2J/J
000480   C3.MRL-Faslpr/J
001957   C3A Pde6brd1.O20/A-Prph2Rd2/J
005973   C3Bir.129P2(B6)-Il10C3Bir/LtJ
004326   C3Bir.129P2(B6)-Il10tm1Cgn/Lt
003968   C3Bir.129P2(B6)-Il10tm1Cgn/LtJ
001906   C3Ga.Cg-Catb/J
001904   C3H-Atcayji-hes/J
000659   C3H/HeJ
000784   C3H/HeJ-Faslgld/J
002433   C3H/HeJ-Spnb4qv-lnd2J/J
005972   C3H/HeJBirLtJ
001824   C3H/HeJSxJ
000635   C3H/HeOuJ
000474   C3H/HeSn
001431   C3H/HeSn-ocd/J
000661   C3H/HeSnJ
002235   C3H/HeSnJ-Ctnna2cdf/J
002333   C3H/HeSnJ-gri/J
006435   C3HeB.SW-Soaa/MonJ
000658   C3HeB/FeJ
001576   C3HeB/FeJ-Atp7btx-J/J
002588   C3HeB/FeJ-Eya1bor/J
001533   C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J
001886   C3HeB/FeJLe a/a-gnd/J
001908   C3HfB/BiJ
001502   C3Sn.B6-Epha4rb/EiGrsrJ
001547   C3Sn.Cg-Cm/J
000656   CBA/J
000813   CBA/J-Atp7aMo-pew/J
000660   DA/HuSnJ
000023   FL/1ReJ
000025   FL/4ReJ
003024   FVB.129P2(B6)-Fmr1tm1Cgr/J
002539   FVB.129P2-Abcb4tm1Bor/J
002935   FVB.129S2(B6)-Ccnd1tm1Wbg/J
002953   FVB.Cg-Tg(MMTVTGFA)254Rjc/J
003170   FVB.Cg-Tg(Myh6-tTA)6Smbf/J
003078   FVB.Cg-Tg(WapIgf1)39Dlr/J
003257   FVB/N-Tg(GFAPGFP)14Mes/J
002374   FVB/N-Tg(MMTV-PyVT)634Mul/J
002856   FVB/N-Tg(TIE2-lacZ)182Sato/J
002384   FVB/N-Tg(UcpDta)1Kz/J
001800   FVB/NJ
003487   FVB/NJ-Tg(XGFAP-lacZ)3Mes/J
001491   FVB/NMob
000734   MOLD/RkJ
000550   MOLF/EiJ
002423   NON/ShiLtJ
000679   P/J
000680   PL/J
100299   PLSJLF1/J
000269   SB/LeJ
005651   SJL.AK-Thy1a/TseJ
000686   SJL/J
000688   ST/bJ
004808   STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
002648   STOCK a/a Cln6nclf/J
000279   STOCK gr +/+ Ap3d1mh/J
005965   STOCK Tg(Pomc1-cre)16Lowl/J
004770   SW.B6-Soab/J
002023   SWR.M-Emv21 Emv22/J
000689   SWR/J
000692   WB/ReJ KitW/J
100410   WBB6F1/J-KitW/KitW-v/J
000693   WC/ReJ KitlSl/J
100401   WCB6F1/J KitlSl KitlSl-d
View Strains carrying   Pde6brd1     (74 strains)

View Strains carrying other alleles of Clcn1     (5 strains)

View Strains carrying other alleles of Pde6b     (10 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms
      assigned by genotype

Clcn1adr-mto/Clcn1adr-mto

        SWR/J
  • behavior/neurological phenotype
  • abnormal voluntary movement (MGI Ref ID J:6814)
    • at 2 weeks of age, mice exhibit stiff extensor postures of the limbs when gently dropped from a height of about 10 cm
    • when tested after 2 hours at 5 degrees Celsius, extensor posture is elicited more easily and its duration is increased by 50%
    • unlike in wild-type mice, scratching motion with hindlimb is not rapid
    • when place in an ice water bath mice exhibit a stiff extensor posture of the hindlimbs that is most prominent in the first minute and gradually subsides
    • mice exhibit stiffening of hindlimbs when supine with difficulty righting and stiffening of hindlimbs after rapid movement
    • abnormal phenotype is visible at 2 weeks of age and is progressive
    • abnormal gait (MGI Ref ID J:6814)
      • mice exhibit a slightly stiff gait and walk slower than wild-type mice
    • impaired limb coordination (MGI Ref ID J:6814)
      • mice are capable of swimming but alternate movements of the hindlimbs are not well coordinated
  • altered righting response (MGI Ref ID J:14251)
    • mice exhibit an arrested development of righting response
  • muscle phenotype
  • *normal* muscle phenotype (MGI Ref ID J:6814)
    • mice do not display muscle fiber necrosis, grouped atrophy or inflammatory infiltrates
    • abnormal muscle physiology (MGI Ref ID J:6814)
      • percussion of muscles occasionally produces a sustained local contraction with sustained posturing
      • however, muscle weakness is not observed
      • abnormal muscle electrophysiology (MGI Ref ID J:6814)
        • unlike in wild-type mice, myotonic discharges are detected from anesthetized mice whose muscles are percussed or stretched
        • unlike in wild-type mice, myotonic discharges continue for several minutes after amputation
        • mice exhibit myotonic discharges in limbs, abdominal, tongue, and eye muscles
      • impaired muscle relaxation (MGI Ref ID J:14251)
        • mice exhibit myotonia
    • increased skeletal muscle mass (MGI Ref ID J:6814)
      • by day 70, mice exhibit increased muscle bulk in the neck and shoulder girdle muscles compared to wild-type mice
  • nervous system phenotype
  • axon degeneration (MGI Ref ID J:6814)
    • by 225 days, mice exhibit degeneration of myelinated axons in the ventrolateral funiculus at all levels of the spinal cord
    • however, nerve roots and mixed peripheral nerves are not affected
  • growth/size phenotype
  • decreased body weight (MGI Ref ID J:6814)
    • at 30 days mice weigh 10% less than wild-type mice and this difference increases to 40% in adulthood
  • reproductive system phenotype
  • reduced fertility (MGI Ref ID J:6814)
    • mice are not reliable breeders
  • skeleton phenotype
  • kyphosis (MGI Ref ID J:6814)
    • mice usually develop mild dorsal kyphosis on a mixed background
    • at day 80, mice exhibit thoracic kyphosis at the T3 to T5 level
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Clcn1adr-mto related

Cell Biology Research
Channel and Transporter Defects
      chloride

Mouse/Human Gene Homologs
myotonia congenita, autosomal dominant, Thomsen disease)

Neurobiology Research
Channel and Transporter Defects
      chloride
Neuromuscular Defects

Pde6brd1 related

Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive

Sensorineural Research
Retinal Degeneration

Genes & Alleles

Gene & Allele Information

 
Allele Symbol Clcn1adr-mto
Allele Name myotonia
Allele Type Spontaneous
Common Name(s) adrmto;
Strain of OriginSWR/J
Gene Symbol and Name Clcn1, chloride channel 1
Chromosome 6
Gene Common Name(s) CLC1; Clc-1; Clc1; MGC138361; MGC142055; NMF355; SMCC; SMCC1; adr; arrested development of righting response; mto; myotonia; neuroscience mutagenesis facility, 355; nmf310; nmf355;
General Note This mutation arose spontaneously in the SWR/J strain. Homozygous mutant mice display classical myotonia similar to that described in human myotonic diseases. Homozygotes are recognizable at 2 weeks of age or earlier by prolonged stiff extension posturesof the limbs when the cage is shaken or the mouse is dropped from about 10 cm. This behavior persists throughout life. When undisturbed, affected animals walk almost normally, but somewhat stiffly. They grow more slowly and weigh about 40% less than controls in adulthood. On an outbred background they may live a year or more and may be fertile. Electromyographic studies revealed changes characteristic of myotonia, i.e. repetitive firing at varying amplitude and frequency in all skeletal muscles tested. These discharges do not originate in peripheral nerves, and there is no evidence of muscle fiber necrosis (J:6814). This myotonia mutation was shown to be allelic to Clc1adr (J:9721).
Molecular Note A nonsense mutation at codon 47 (C to T transition) is predicted to change an arginine residue into a stop codon ahead of the first transmembrane region of Clcn1. Northern analyses of adult skeletal muscle using a 5' and a 3' rat cDNA Clcn1 probe detected wild-type size transcript in homozygous mutant mice (J:752). [MGI Ref ID J:16954]
 
Allele Symbol Pde6brd1
Allele Name retinal degeneration 1
Allele Type Spontaneous
Common Name(s) Pdebrd1; rd; rd-1; rd1; rodless retina;

Genotyping

Genotyping Information

Genotyping Protocols

Clcn1adr-mto, Melt Curve Analysis
Clcn1adr-mto, Separated PCR

Helpful Links

Genotyping resources and troubleshooting

References

References

Selected Reference(s)

Mehrke G; Brinkmeier H; Jockusch H. 1988. The myotonic mouse mutant ADR: electrophysiology of the muscle fiber. Muscle Nerve 11(5):440-6. [PubMed: 2453798]  [MGI Ref ID J:25830]

Additional References

Gronemeier M; Condie A; Prosser J; Steinmeyer K; Jentsch TJ; Jockusch H. 1994. Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice. J Biol Chem 269(8):5963-7. [PubMed: 8119941]  [MGI Ref ID J:16954]

Gurnett CA; Kahl SD; Anderson RD; Campbell KP. 1995. Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice. J Biol Chem 270(16):9035-8. [PubMed: 7721815]  [MGI Ref ID J:24524]

Klocke R; Steinmeyer K; Jentsch TJ; Jockusch H. 1994. 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 269(44):27635-9. [PubMed: 7961681]  [MGI Ref ID J:21240]

Schnulle V; Antropova O; Gronemeier M; Wedemeyer N; Jockusch H ; Bartsch JW. 1997. The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mamm Genome 8(10):718-25. [PubMed: 9321463]  [MGI Ref ID J:43488]

Clcn1adr-mto related

Adkison L; Harris B; Lane PW; Davisson MT. 1989. New alleles of "arrested development of righting response (adr)". Mouse News Lett 84:89-90.  [MGI Ref ID J:14251]

Gronemeier M; Condie A; Prosser J; Steinmeyer K; Jentsch TJ; Jockusch H. 1994. Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice. J Biol Chem 269(8):5963-7. [PubMed: 8119941]  [MGI Ref ID J:16954]

Heller AH; Eicher EM; Hallett M; Sidman RL. 1982. Myotonia, a new inherited muscle disease in mice. J Neurosci 2(7):924-33. [PubMed: 7097320]  [MGI Ref ID J:6814]

Jockusch H; Bertram K. 1986. 'Arrested development of righting response' (adr) and 'myotonia' (mto) are allelic Mouse News Lett 75:19-20.  [MGI Ref ID J:17758]

Jockusch H; Bertram K; Schenk S. 1988. The genes for two neuromuscular diseases of the mouse, 'arrested development of righting response', adr, and 'myotonia', mto, are allelic. Genet Res 52(3):203-5. [PubMed: 3243424]  [MGI Ref ID J:9721]

Kimura T; Takahashi MP; Fujimura H; Sakoda S. 2003. 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 347(3):191-5. [PubMed: 12875918]  [MGI Ref ID J:108028]

Koltgen D; Brinkmeier H; Jockusch H. 1991. Myotonia and neuromuscular transmission in the mouse. Muscle Nerve 14(8):775-80. [PubMed: 1653899]  [MGI Ref ID J:18371]

van Lunteren E; Moyer M; Pollarine J. 2007. Genetic CLC-1 chloride channel deficiency modifies diaphragm muscle isometric contractile properties. Respir Physiol Neurobiol 155(3):220-6. [PubMed: 16959550]  [MGI Ref ID J:136596]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Colony Maintenance

Breeding & HusbandryUntil at least 7 weeks of age, homozygotes require a wildtype companion for warmth in shipping.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Price (US dollars $)
Cryorecovery Fee $1900.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Price (US dollars $)
Cryorecovery Fee $2470.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Additional Supply Details

Supply Details

Standard SupplyCryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

  • This strain is included in the Mouse Mutant Resource collection.
  • Genomic DNA is available for this strain from the Mouse DNA Resource.
Important Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.

Control Information

  Control
   Untyped from the colony
 
  Considerations for Choosing Controls
  USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
  International - Control Pricing Information for Genetically Engineered Mutant Strains.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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