Description

Strain Information

Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse

Appearance
albino, myotonic
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c Clcn1^adr-mto2J/Clcn1^adr-mto2J

albino, non-myotonic (unaffected)
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/ Tyr^c +/? or A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c Clcna1^adr-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-Foxn1^nu/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   Clcn1^adr-mto2J allele

003922

BALB/cByJ-Clcn1adr-mto2J jgl/J

View Strains carrying   Clcn1^adr-mto2J     (1 strain)

Strains carrying other alleles of Clcn1

003817	B6;129S-Fcgr2btm1Ttk Clcn1adr-mto5J/J
005253	C57BL/6J-Clcn1adr-mto6J/J
005465	C57BL/6J-Clcn1adr-mto7J/J
008253	C57BL/6J-Clcn1adr-mto9J/J
000939	SWR/J-Clcn1adr-mto/J

View Strains carrying other alleles of Clcn1     (5 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Clcn1^adr-mto2J/Clcn1^adr-mto2J

        BALB/cByJ-Clcn1^adr-mto2J

• muscle phenotype
• impaired muscle relaxation (MGI Ref ID J:112061)
  • mice exhibit generalized myotonia
• behavior/neurological phenotype
• impaired righting response (MGI Ref ID J:112178)
  • at 2 weeks of age mice exhibit impaired ability to right
• homeostasis/metabolism phenotype
• decreased sensitivity to xenobiotics (MGI Ref ID J:112178)
  • unlike in wild-type mice, evoked endplate current decay is insensitive to tetrodotoxin

View Research Applications

Research Applications

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

Clcn1^adr-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

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; MGC138361; MGC142055; 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).

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

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]

Clcn1^adr-mto2J 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]

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

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. 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 (at least two untested pairs) 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 or 1-207-288-5845. Cryorecovery to establish a Dedicated Supply for greater quantities of mice One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. This strain is included in the Mouse Mutant Resource collection. Genomic DNA is available for this strain from the Mouse DNA Resource.

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.

General Terms and Conditions

See Terms of Use

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.

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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.