These mice carry an ENU-induced mutation characterized by abnormal development of motor neurons. These mice may be useful in studies relating to neuromuscular movement disorders.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
The mutants are small and show splayed hind limbs ('seal-like' gait) by weaning age (mean 3.3 weeks of age +/- 0.6; n=18). The hind limbs are also weak, with intermittent spasms, and the mice move around with great difficulty. Male or female mutants have been produced, though a colony has to be maintained through ovarian transplants. Because of the map position of this mutation, and its phenotypic similarity to dystonia musculorum, complementation tests with dt-J (JR# 0211) have been performed to determine if NMF203 represents an allele of Dst (dystonin). Three heterozygote matings (NMF203 x Dstdt-J) produced 10 mutants in a total of 34 progeny (3 n/n of 11; 3 of 13, 4 of 10), suggesting that NMF203 indeed represents a new allele of Dstdt-J.
Standard pathology work-up on two mutants (22 days of age) showed dystrophic axons in the lumbar spinal cord. Additional staining with
Bodian revealed pale staining, misshapen brain stem and motor neurons. Luxol Fast Blue staining revealed degeneration in the peripheral nerves, however double-labeling neuromuscular junctions with Alpha-Bungarotoxin (acetylcholinreceptors), anti-Neurofilament or SV2 (motor neurons) antibodies have not revealed any marked differences between mutant and control animals. An atrophic thymus was also noted in both animals.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.
|Allele Name||dsytonia musculorum 36 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Dstnmf203; neuroscience mutagenesis facility, 203; NMF203|
|Gene Symbol and Name||Dst, dystonin|
|Strain of Origin||C57BL/6J|
|Molecular Note||nmf203 was determined to be an allele at the Dst locus based on complementation analysis with Dstdt-J.|
When using the dsytonia musculorum 36 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #004829 in your Materials and Methods section.