Mice homozygous for the spasmodic spontaneous mutation (Glra1spd) have rapid tremors, stiff posture, and difficulty in righting themselves. No differences have been observed in the levels of major CNS or PNS myelin proteins or lipids. As with the spastic mutation (Glrbspa) of the mouse, aminooxyacetic acid improves the behavioral abnormalities in spasmodic mice, but, unlike in spastic mice, no changes in the postsynaptic receptors for glycine, GABA or benzodiazepines have been observed.
|Gene Symbol and Name||a, nonagouti|
|Strain of Origin||old mutant of the mouse fancy|
|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 at-2Gso and Aw-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.|
|Allele Synonym(s)||Glra1spd -; spd|
|Gene Symbol and Name||Glra1, glycine receptor, alpha 1 subunit|
|Strain of Origin||A/HeJ|
|Molecular Note||This allele is the result of a missense mutation comprising a G-toT transversion producing an alanine-to-serine substitution at position 80 in the N-terminal domain of the encoded protein (p.A80S).|
Homozygous males do not breed. When maintaining a live colony, heterozygous mice may be bred together or to wildtype mice from the colony.
When using the spasmodic mouse strain in a publication, please cite the originating article(s) and include JAX stock #001278 in your Materials and Methods section.