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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
Former Names B6C3Fe-a/a-Dstdt-J (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N60F2p Appearance
black
Related Genotype: a/aDescription
Mice homozygous for the dystonia musculorum-J spontaneous mutation (Dstdt-J)are recognizable at 7 to 10 days of age by clasping of the hindlimbs when mice are lifted by the tail. There is increasing incoordination with alternating hyperextension and hyperflexion of the limbs but no obvious paralysis. Many affected animals die before weaning, but some survive several months. The clinical condition becomes relatively stationary after the first phase of deterioration. Histologically, the nervous system shows degenerative changes and progressive loss of nerve fibers in the central and peripheral branches of the sensory ganglion cells of the spinal and cranial nerves, in the central sensory pathways, and in peripheral sensory structures such as skin, Pacinian corpuscles, and muscle spindles. In the PNS, there is some segmental demyelination and other abnormalities of the myelin sheaths.Development
The dystonia Jackson (dt-J) mutation arose spontaneously in 1957 in the C3HeB/FeDi inbred strain when that strain was at F20. dt-J was initially named athetoid (ah) but was changed to dt-J in 1964 when D. S. Falconer in Edinburgh performed a positive allele test with the original dystonia (dt) mutation (Lane 1958; Falconer 1964). The dt-J allele was maintained heterozygote x heterozygote via test breeding then at F33 was changed to homozygous ovarian transplant backcrossed to C57BL/6J followed by intercross. This reached F33N4 in 1973. At F33N11 the strain was outcrossed once to C3HeB/FeJ A/A, intercrossed once and subsequently maintained by homozygous ovarian transplant crossed to B6C3Fe-a/a F1 then intercross. In 1979 this strain reached N6, in 1983 it reached N18, and in 2004 it reached N59.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying a allele
View Strains carrying a (104 strains)
005633 B6;CByJ-Dstdt-38J/J 004829 C57BL/6J-Dstdt-36J/J 005560 C57BL/6J-Dstdt-37J/J
Phenotype
Phenotype Information
assigned by genotype
Dstdt-J/Dstdt-J
B6C3Fe a/a-Dstdt-J/J
- behavior/neurological phenotype
- abnormal motor coordination/ balance (MGI Ref ID J:106403)
- animals exhibit limb flexion when suspended by the tail
- ataxia (MGI Ref ID J:106403)
- mutants are ataxic
- impaired balance (MGI Ref ID J:106403)
- rears and grooming in mutants are usually incomplete due to loss of equilibrium
- impaired coordination (MGI Ref ID J:106403)
- mutants fall more quickly in stationary beam tests than controls; latencies before falling increase over several days
- abnormal postural reflex (MGI Ref ID J:106403)
- mutants showed significant alterations in all measures of postural reflexes other than contact righting
- abnormal posture (MGI Ref ID J:106403)
- animals exhibit folding to the trunk when suspended by the tail
- abnormal response to tactile stimuli (MGI Ref ID J:106403)
- animals are less reactive to touch (smaller escape reflex
- decreased aggression (MGI Ref ID J:106403)
- animals are less reactive to provoked biting
- decreased startle reflex (MGI Ref ID J:106403)
- animals are less reactive to auditory stimuli
- positive geotaxis (MGI Ref ID J:106403)
- animals do not exhibit negative geotaxis and fall off an inclined grid immediately
- tremors (MGI Ref ID J:106403)
- some animals display tremor while at rest and in movement
- growth/size phenotype
- decreased body weight (MGI Ref ID J:106403)
- mutants have 58% lower mean bodyweights than controls
- pigmentation phenotype
- abnormal skin pigmentation (MGI Ref ID J:106403)
- animals have paler skin than controls
- skin/coat/nails phenotype
- abnormal skin pigmentation (MGI Ref ID J:106403)
- animals have paler skin than controls
- touch/vibrissae phenotype
- abnormal response to tactile stimuli (MGI Ref ID J:106403)
- animals are less reactive to touch (smaller escape reflex
- vision/eye phenotype
- abnormal eye distance/ position (MGI Ref ID J:106403)
- eyes of majority of mutants are half-closed
- enophthalmos (MGI Ref ID J:106403)
- eyes of mutants seem less prominent
- hearing/vestibular/ear phenotype
- decreased startle reflex (MGI Ref ID J:106403)
- animals are less reactive to auditory stimuli
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Dstdt-J/Dstdt-J
C3HeB/FeJ-Dstdt-J
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:24773)
- no homozygote has lived beyond 23 days
- behavior/neurological phenotype
- abnormal motor coordination/ balance (MGI Ref ID J:24773)
- animals make constant swimming motions while on their bellies
- athetotic walking movements (MGI Ref ID J:24773)
- animals are unable to walk normally
- abnormal posture (MGI Ref ID J:24773)
- animals are unable to stand normally
This mouse can be used to support research in many areas including:Dstdt-J related
Developmental Biology Research
Neurodevelopmental Defects
Mouse/Human Gene Homologs
bullous pemphigoid
Neurobiology Research
Myelination Defects
Neurodevelopmental Defects
Neuromuscular Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Dstdt-J | ||
|---|---|---|---|
| Allele Name | dystonia musculorum Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | ah; athetoid; dt; | ||
| Strain of Origin | C3HeB | ||
| Gene Symbol and Name | Dst, dystonin | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | 2310001O04Rik; A830042E19Rik; AW554249; BP240; BPA; BPAG1; BPAG1-n; Bpag; Bpag1; CATX-15; D6S1101; DKFZp564B2416; DMH; DT; FLJ46791; KIAA0465; KIAA1470; MACF2; RIKEN cDNA 2310001O04 gene; RIKEN cDNA A830042E19 gene; ah; athetoid; bullous pemphigoid antigen; bullous pemphigoid antigen 1; bullous pemphigoid antigen 1, 230 kDa; dt; dystonia musculorum; expressed sequence AW554249; mKIAA0728; neuroscience mutagenesis facility, 203; neuroscience mutagenesis facility, 339; nmf203; nmf339; | ||
| General Note | At least 27 remutations have occurred at The Jackson Laboratory. The first, Dstdt-J, occurred spontaneously in C3HeB, and was originally designated athetoid (J:24773). It was soon shown to be an allele of the dt mutation, however (J:160) | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Bernier G; Pool M; Kilcup M; Alfoldi J; De Repentigny Y; Kothary R. 2000. Acf7 (MACF) is an actin and microtubule linker protein whose expression predominates in neural, muscle, and lung development Dev Dyn 219(2):216-25. [PubMed: 11002341] [MGI Ref ID J:65028]
Brown A; Bernier G; Mathieu M; Rossant J; Kothary R. 1995. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nat Genet 10(3):301-6. [PubMed: 7670468] [MGI Ref ID J:26733]
De Repentigny Y; Deschenes-Furry J; Jasmin BJ; Kothary R. 2003. Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice. J Neurochem 86(3):564-71. [PubMed: 12859670] [MGI Ref ID J:91505]
Duchen LW. 1976. Dystonia musculorum--an inherited disease of the nervous system in the mouse. Adv Neurol 14:353-65. [PubMed: 133598] [MGI Ref ID J:5674]
Strazielle C; Ase AR; Lalonde R; Reader TA. 2002. Biochemical and autoradiographic studies of the central noradrenergic system in dystonia musculorum mutant mice. J Chem Neuroanat 23(2):143-55. [PubMed: 11841918] [MGI Ref ID J:91450]
Dstdt-J relatedFalconer DS. 1964. Allelism of athetoid (ah) and dystonia (dt) Mouse News Lett 31:21. [MGI Ref ID J:160]
Hanker JS; Peach R. 1976. Histochemical and ultrastructural studies on primary sensory neurons in mice with dystonia musculorum. I. Acetylcholinesterase and lysosomal hydrolases. Neuropathol Appl Neurobiol 2:79-97. [MGI Ref ID J:15350]
Kothary R; Clapoff S; Brown A; Campbell R; Peterson A; Rossant J. 1988. A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature 335(6189):435-7. [PubMed: 3138544] [MGI Ref ID J:17844]
Lalonde R; Botez MI; Bontemps R; Loron P. 1994. Effects of an ectodermal microceptor preparation on motor coordination in cerebellar mutant mice. Pharmacol Biochem Behav 49(4):777-9. [PubMed: 7886086] [MGI Ref ID J:22067]
Lalonde R; Joyal CC; Botez MI. 1994. Exploration and motor coordination in dystonia musculorum mutant mice. Physiol Behav 56(2):277-80. [PubMed: 7938238] [MGI Ref ID J:19530]
Lalonde R; Joyal CC; Cote C. 1993. Swimming activity in dystonia musculorum mutant mice. Physiol Behav 54(1):119-20. [PubMed: 8327590] [MGI Ref ID J:16000]
Lalonde R; Marchetti N; Strazielle C. 2005. Primary neurologic screening and motor coordination of Dstdt-J mutant mice (dystonia musculorum) with spinocerebellar atrophy. Physiol Behav 86(1-2):46-51. [PubMed: 16087202] [MGI Ref ID J:106403]
Lane PW. 1958. Athetoid - ah Mouse News Lett 19:25. [MGI Ref ID J:37368]
Lane PW. 1958. New mutants: Dancer, Athetoid, and mahogany Mouse News Lett 19:25. [MGI Ref ID J:24773]
Ongali B; Ase AR; Hebert C; Amdiss F; Reader TA. 2000. Dopamine D(1) and D(2) receptors in the forebrain of dystonia musculorum mutant mice: an autoradiographic survey in relation to dopamine contents. Synapse 37(1):1-15. [PubMed: 10842346] [MGI Ref ID J:113185]
Strazielle C; Ase AR; Lalonde R; Reader TA. 2002. Biochemical and autoradiographic studies of the central noradrenergic system in dystonia musculorum mutant mice. J Chem Neuroanat 23(2):143-55. [PubMed: 11841918] [MGI Ref ID J:91450]
Strazielle C; Lalonde R; Amdiss F; Botez MI; Hebert C; Reader TA. 1998. Distribution of dopamine transporters in basal ganglia of cerebellar ataxic mice by [125I] RTI-121 quantitative autoradiography. Neurochem Int 32(1):61-8. [PubMed: 9460703] [MGI Ref ID J:47901]
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
| 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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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. | ||
Payment Terms and Conditions
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.
See Terms of Use tab for General Terms and Conditions
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 and Purchasing Information
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