Overview

Also Known As:neuromuscular ataxia

These mice carry the spontaneous nma (neuromuscular ataxia) mutation and are characterized by small size, abnormal gait, and hind limb weakness.

Genetic overview

Genetic Background	Generation

a

Allele Type	Gene Symbol	Gene Name
Spontaneous	a	nonagouti

Allele Type	Gene Symbol	Gene Name
Spontaneous	nma	neuromuscular ataxia

Research Applications

Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

nma arose spontaneously in 1985 on the CBA/J inbred strain at The Jackson Laboratory. From the age of 12 days, mice homozygous for nma are smaller than their normal littermates, weighing 50% less. They exhibit an abnormal gait, in which the hind legs extend past the front legs, and hind limb weakness that causes the mice to fall to the side. When sitting, nma/nma mice overextend their rear legs and prop themselves up in the shavings or against the cage wall. When picked up by the tail, homozygotes extend their rear legs briefly, then clasp their hind feet. They cannot orient themselves in water and spiral to the bottom of the tank. nma/nma mice survive only a few days past weaning, even with food and water made readily available. Heterozygotes appear normal behaviorally, histologically and biochemically.

Examination of serial sections through the entire brain revealed no abnormalities. The spinal cord motor neurons, spinal roots, ganglia and nerves were normally organized and myelinated. There was no muscular dystrophy or neurogenic atrophy of the skeletal muscle. Somatic organs appeared normal. Bone and muscle from the fore- and hindlimbs "showed no consistent abnormalities" and appeared normally innervated. X-ray analysis revealed normal hip joint structure, excluding hip abnormality as the reason for the hind limb overextension. ABR threshold analysis indicated that mice homozygous for nma have normal hearing at 18-21 days of age, and histological analysis of inner ears revealed no anomalies. Homozygotes exhibited significantly lower serum glucose and alanine aminotransferase (ALT) levels than normal littermates; blood urea nitrogen (BUN) did not differ. Heterozygote values were intermediate between those of the F1 parental strains, indicating that heterozygosity for nma has no effect on these parameters (Ward-Bailey et al. 2000).

Development

The mutation neuromuscular ataxia (nma) arose spontaneously in strain CBA/J at generation F195 at The Jackson Laboratory in 1985. A carrier mouse was outcrossed to a B6C3Fe-a/a F1 and the F1 pairs were mated. It was continually backcrossed to the hybrid B6C3Fe-a/a by the cross-intercross method. It was cryopreserved in 1995 by mating heterozygotes at generation N22+.

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.

nma

Allele Symbol: nma

Allele Name	neuromuscular ataxia
Allele Type	Spontaneous
Allele Synonym(s)
Gene Symbol and Name	nma, neuromuscular ataxia
Gene Synonym(s)
Strain of Origin	CBA/J
Chromosome	12

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: nma related

Neurobiology Research
- Ataxia (Movement) Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: nma/nma
B6C3Fe a/a-nma/J

behavior/neurological phenotype

abnormal gait

dysmetria
- rear legs are overextended when sitting and extend beyond the front legs when walking

impaired balance
- mutants have problems maintaining their balance and appear to prop themselves up in the shavings or against the cage wall when sitting
- when placed in water, mutants cannot orient body position and go to the bottom of the container in a rolling spiral

limb grasping
- when picked up the tail, the rear legs are held in an extended position for a brief period and then the legs clasp

paraparesis
- weakness in the hindlimbs that causes mutant to fall to one side and then the other

weakness
- mutants are frail and exhibit a general weakness

homeostasis/metabolism phenotype

decreased circulating glucose level
- significantly reduced blood glucose

mammalian phenotype

hearing/vestibular/ear phenotype
- normal hearing and ears

muscle phenotype
- Normal - skeletal muscle shows no muscular dystrophy or neurogenic atrophy

nervous system phenotype
- Normal - although the behavioral abnormalities appear similar to mice that have cerebellum abnormalities, brain sections reveal no abnormalities, especially in the cerebellum

mortality/aging

premature death

growth/size/body region phenotype

decreased body size
- small size is noticeable by 12 days of age

decreased body weight
- mutants weigh 50% less than control littermates

References

Additional - a related

Additional - nma related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- black
  Related Genotype: a/a
Citation
When using the neuromuscular ataxia mouse strain in a publication, please cite the originating article(s) and include JAX stock #002339 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

Domestic
International

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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