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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
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
Former Names BALB/cByJ-Clcn1adr-mto2J/J (Changed: 25-MAY-10 ) Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N5F12+N1p
Generation DefinitionsAppearance
albino, myotonic
Related Genotype: A/A Tyrp1b/Tyrp1b Tyrc/Tyrc Clcn1adr-mto2J/Clcn1adr-mto2J
albino, non-myotonic (unaffected)
Related Genotype: A/A Tyrp1b/Tyrp1b Tyrc/ Tyrc +/? or A/A Tyrp1b/Tyrp1b Tyrc/Tyrc Clcna1adr-mto2J/+Description
Mice homozygous for the myotonia spontaneous mutations exhibit classical myotonia similar to that described in human myotonic diseases. Homozygous mutant mice 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.Development
Myotonia 2J arose spontaneously at The Jackson Laboratory in CByJ.Cg-Foxn1nu/J (Stock No. 000711) when it was at N5F1 in 1987. It has been maintained by mating progeny tested siblings. In 2001 it was again backcrossed to BALB/cBy and tested sibling matings were continued.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Clcn1adr-mto2J allele
003922 BALB/cByJ-Clcn1adr-mto2J jgl/GrsrJ View Strains carrying Clcn1adr-mto2J (1 strain)
003817 B6;129S-Fcgr2btm1Ttk Clcn1adr-mto5J/J 005253 C57BL/6J-Clcn1adr-mto6J/J 005465 C57BL/6J-Clcn1adr-mto7J/J 000939 SWR/J-Clcn1adr-mto/J
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Myotonia Congenita, Autosomal Dominant (CLCN1)
Myotonia Congenita, Autosomal Recessive (CLCN1)
assigned by genotype
Clcn1adr-mto2J/Clcn1adr-mto2J
BALB/cByJ-Clcn1adr-mto2J
- muscle phenotype
- impaired muscle relaxation
- mice exhibit generalized myotonia (MGI Ref ID J:112061)
- behavior/neurological phenotype
- impaired righting response
- at 2 weeks of age mice exhibit impaired ability to right (MGI Ref ID J:112178)
- homeostasis/metabolism phenotype
- decreased physiological sensitivity to xenobiotic
- unlike in wild-type mice, evoked endplate current decay is insensitive to tetrodotoxin (MGI Ref ID J:112178)
This mouse can be used to support research in many areas including:Clcn1adr-mto2J 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
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Clcn1adr-mto2J | ||
|---|---|---|---|
| Allele Name | myotonia 2 Jackson | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | BALB/cByOu-Foxn1nu | ||
| Gene Symbol and Name | Clcn1, chloride channel 1 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | CLC1; Clc-1; Clc1; NMF355; SMCC; SMCC1; adr; arrested development of righting response; mto; myotonia; neuroscience mutagenesis facility, 355; nmf310; nmf355; | ||
| General Note | Allelism testing showed this mutation to be allelic to Clcn1adr-mto (J:14251). | ||
References
References provided by MGI
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]
Clcn1adr-mto2J relatedAdkison 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]
Lin X; Miller JW; Mankodi A; Kanadia RN; Yuan Y; Moxley RT; Swanson MS; Thornton CA. 2006. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15(13):2087-97. [PubMed: 16717059] [MGI Ref ID J:112061]
Lueck JD; Lungu C; Mankodi A; Osborne RJ; Welle SL; Dirksen RT; Thornton CA. 2007. Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol 292(4):C1291-7. [PubMed: 17135300] [MGI Ref ID J:125885]
Wang X; Engisch KL; Teichert RW; Olivera BM; Pinter MJ; Rich MM. 2006. 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 26(35):8983-7. [PubMed: 16943554] [MGI Ref ID J:112178]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2250.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery of Strains Needing Progeny Testing.
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks.Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). 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).
| Pricing for International shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2925.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery of Strains Needing Progeny Testing.
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks.Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). 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).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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The Jackson Laboratory's Genotype Promise
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.Ordering Information
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| phone: | 207-288-6470 |
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JAX® Mice, Products & Services Conditions of Use
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