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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- 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
Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. 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.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
View Strains carrying Pde6brd1 (74 strains)
003817 B6;129S-Fcgr2btm1Ttk Clcn1adr-mto5J/J 003922 BALB/cByJ-Clcn1adr-mto2J jgl/GrsrJ 001265 BALB/cByJ-Clcn1adr-mto2J/J 005253 C57BL/6J-Clcn1adr-mto6J/J 005465 C57BL/6J-Clcn1adr-mto7J/J
004297 B6.CXB1-Pde6brd10/J 005252 B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ 003647 B6EiC3Sn.BLiAF1 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
Phenotype
Phenotype Information
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
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
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Clcn1adr-mto | ||
|---|---|---|---|
| Allele Name | myotonia | ||
| Allele Type | Spontaneous | ||
| 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 | ||
| 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 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]
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 & Husbandry Until 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 |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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| 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.Ordering and Purchasing Information
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