Overview

Also Known As:dystonia musculorum Jackson

Mice homozygous for the dystonia musculorum-J spontaneous mutation (Dst^dt-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.

Genetic overview

Genetic Background	Generation

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Dst^dt-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Dst	dystonin

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Research Applications

Developmental Biology Research
Neurobiology Research
Mouse/Human Gene Homologs

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$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous for the dystonia musculorum-J spontaneous mutation (Dst^dt-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 Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Genetics

a

Allele Symbol: a

Allele Name	nonagouti
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	a, nonagouti
Gene Synonym(s)
Strain of Origin	old mutant of the mouse fancy
Chromosome	2
General Note	Insertion of the LV30 retrotransposon without the beta4 retrovirus sequence does not cause the nonagouti phenotype. J:278039
Molecular Note	Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats (beta4 retroviral sequence). The host integration site is the same as for a^t-2Gso and A^w-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type.

Dst^dt-J

Allele Symbol: Dst^dt-J

Allele Name	dystonia musculorum Jackson
Allele Type	Spontaneous
Allele Synonym(s)	ah; athetoid; dt
Gene Symbol and Name	Dst, dystonin
Gene Synonym(s)
Strain of Origin	C3HeB
Chromosome	1
General Note	At least 27 remutations have occurred at The Jackson Laboratory. The first, Dst^dt-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)

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Dst^dt-J related

Developmental Biology Research
- Neurodevelopmental Defects
Neurobiology Research
- Myelination Defects
- Neurodevelopmental Defects
- Neuromuscular defects
Mouse/Human Gene Homologs
- bullous pemphigoid

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Dst^dt-J/Dst^dt-J
C3HeB/FeJ-Dst

behavior/neurological phenotype

athetotic walking movements
- animals are unable to walk normally

abnormal motor coordination/balance
- animals make constant swimming motions while on their bellies

abnormal posture
- animals are unable to stand normally

mortality/aging

postnatal lethality, complete penetrance
- no homozygote has lived beyond 23 day

The following phenotype relates to a compound genotype created using this strain

Genotype: Dst^dt-J/Dst^dt-J
B6C3Fe a/a-Dst/J

growth/size/body region phenotype

decreased body weight
- mutants have 58% lower mean bodyweights than controls

integument phenotype

abnormal skin pigmentation
- animals have paler skin than controls

abnormal response to tactile stimuli
- animals are less reactive to touch (smaller escape reflex

pigmentation phenotype

abnormal skin pigmentation
- animals have paler skin than controls

vision/eye phenotype

enophthalmos
- eyes of mutants seem less prominent

abnormal eye distance/ position
- eyes of majority of mutants are half-closed

behavior/neurological phenotype

abnormal response to tactile stimuli
- animals are less reactive to touch (smaller escape reflex

decreased aggression
- animals are less reactive to provoked biting

tremors
- some animals display tremor while at rest and in movement

decreased startle reflex
- animals are less reactive to auditory stimuli

impaired balance
- rears and grooming in mutants are usually incomplete due to loss of equilibrium

abnormal postural reflex
- mutants showed significant alterations in all measures of postural reflexes other than contact righting

abnormal posture
- animals exhibit folding to the trunk when suspended by the tail

abnormal motor coordination/balance
- animals exhibit limb flexion when suspended by the tail

impaired coordination
- mutants fall more quickly in stationary beam tests than controls; latencies before falling increase over several days

ataxia
- mutants are ataxic

positive geotaxis
- animals do not exhibit negative geotaxis and fall off an inclined grid immediately

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):216-25PubMed: 11002341 MGI: 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):301-6PubMed: 7670468 MGI: 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):564-71PubMed: 12859670 MGI: J:91505
Duchen LW. 1976. Dystonia musculorum--an inherited disease of the nervous system in the mouse. Adv Neurol 14:353-65PubMed: 133598 MGI: 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):143-55PubMed: 11841918 MGI: J:91450

Additional - a related

Additional - Dst^dt-J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black
  Related Genotype: a/a
Citation
When using the dystonia musculorum Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000211 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

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Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Progeny testing required but not provided. No genotyping assay is available for these recessive cryo-recovered animals of undefined genotype

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Also Known As:dystonia musculorum Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

a

Allele Symbol: a

Dstdt-J

Allele Symbol: Dstdt-J

Disease Terms

Research Areas By Phenotype

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

Genotype: Dstdt-J related

Mammalian Phenotype Terms by Genotype

Genotype: Dstdt-J/Dstdt-JC3HeB/FeJ-Dst

behavior/neurological phenotype

mortality/aging

Genotype: Dstdt-J/Dstdt-JB6C3Fe a/a-Dst/J

growth/size/body region phenotype

integument phenotype

pigmentation phenotype

vision/eye phenotype

behavior/neurological phenotype

References

Additional References

Additional - a related

Additional - Dstdt-J related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Dst^dt-J

Allele Symbol: Dst^dt-J

Genotype: Dst^dt-J related

Genotype: Dst^dt-J/Dst^dt-J
C3HeB/FeJ-Dst

Genotype: Dst^dt-J/Dst^dt-J
B6C3Fe a/a-Dst/J

Additional - Dst^dt-J related