These mice carry an ENU-induced mutation and exhibit abnormal limb use with intermittent spasms.
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Complementation tests with Dstdt-J/J (JR# 0211) have shown that NMF403 represents an allele of Dystonin (Dst; i.e. heterozygote matings produced 3 mutants in a total of 10 progeny). In these mutants, hind and front limbs are severely affected: hind limbs are splayed, weak, show intermittent spasms, and appear to be barely usable for walking; although front paws are frequently turned medially, mutants use predominantly their front limbs to move around. NMF403 mice are smaller and more fragile than their littermates and require easy access to food; still they might not reach adult age. On-set of the phenotype is at 2 weeks of age (mean 2.3 weeks of age +/- 0.8; n=6). Standard pathology work-up at 80 days of age did not show any abnormalities. Mutants do not breed, and a colony has to be maintained through ovarian transplants.
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.
|Allele Name||dystonia musculorum 38 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Dstnmf403; neurobiology mutagenesis facility, 403; NMF349; nmf403|
|Gene Symbol and Name||Dst, dystonin|
|Strain of Origin||C57BL/6J|
|Molecular Note||This phenotypic mutation was identified in an ENU mutagenesis screen. Complementation testing versus Dstdt-J showed it to be an allele of dystonin.|
When using the B6;CByJ-Dstdt-38J/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #005633 in your Materials and Methods section.