Strain Name: |
SWR/J-Clcn1adr-mto/J |
|---|---|
Stock Number: |
000939 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Clcn1; Clcn1adr-mto; Pde6b; Pde6brd1; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory 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.Strain 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.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Clcn1adr-mto | ||
|---|---|---|---|
| Allele Name | myotonia | ||
| Common Name(s) | adrmto; | ||
| Strain of Origin | SWR/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 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
Control Information
| Allele | Control | |
|---|---|---|
| Clcn1adr-mto | Untyped from the colony | |
| Considerations for Choosing Controls | ||
Genotyping Protocols
Clcn1adr-mto
Colony Maintenance
| Breeding & Husbandry | Until at least 7 weeks of age, homozygotes require a wildtype companion for warmth in shipping. |
|---|
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
003817 B6;129S-Fcgr2btm1Ttk Clcn1adr-mto5J/J 003922 BALB/cByJ-Clcn1adr-mto2J jgl/J 001265 BALB/cByJ-Clcn1adr-mto2J/J 005253 C57BL/6J-Clcn1adr-mto6J/J 005465 C57BL/6J-Clcn1adr-mto7J/J 008253 C57BL/6J-Clcn1adr-mto9J/J
004297 B6.CXB1-Pde6brd10/J 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Research Applications
This mouse can be used to support research in many areas including:Clcn1adr-mto related
Pde6brd1 relatedCell 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
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
References
Selected Reference(s)
Additional ReferencesMehrke 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]
Price and Supply Information
| Strain Name: | SWR/J-Clcn1adr-mto/J |
| Stock Number: | 000939 |
Price Details
IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. 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 males and two females (two pairs) will be provided, 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 delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
General Terms and Conditions
View JAX® Mice & Services Conditions of Use.
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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.Ordering and Purchasing Information
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