These mice carry an ENU-induced mutation and exhibit body tremors and abnormal movement.
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 exhibit an intense body tremor that is absent when they are sitting still (i.e. when mice are resting on their hind legs without moving their torso), and some torso swaying; head nodding behavior is observable, predominantly in older, male mutants. Hind limbs are splayed apart, and when picked up by their tail, the hind limbs of some mutants are clasped to the body; occasionally mutants may jump into the air. The onset of the phenotype is at 3 weeks of age (average 3.2+/-1.6 weeks; n=46); a colony can be maintained through regular breeding. Complementation analysis with Sptbn4 (spectrin beta 4, old symbol qv, also known as lumbosacral neuroaxonal dystrophy) nmf379 resulted in 5 mutants in a total of 20 progeny, demonstrating that nmf470 represents an allele of nmf379, and therefore also of Sptbn4. Standard pathology work-up on two mutants (172 days of age) revealed no abnormalities.
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||quivering 9 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||neuroscience mutagenesis facility, 470; NMF470; Spnb4nmf470|
|Gene Symbol and Name||Sptbn4, spectrin beta, non-erythrocytic 4|
|Strain of Origin||C57BL/6J|
|Molecular Note||This phenotypic mutation was identified in an ENU mutagenesis screen. In an allelism test, it failed to complement Spnb4qv-8J.|