These mice carry an ENU-induced mutation characterized by body tremors and hind limb spasms.
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The mutants show intense body tremor at rest and during movement, and brief, intermittent hind limb spasms that may occur uni-or bilaterally; at times they use both hind limbs simultaneously to move forward. On-set of the phenotype is at approximately 5 weeks of age (average 4.8+/- 1.4 weeks; n=131), but increases in severity with age.
Complementation analysis showed NMF379 to be an allele of Sptbn4 (Stock No. 002433, C3H/HeJ-Sptbn4qv-lnd2J/J), i.e. heterozygote matings produced 4 affected mice in a total of 10 progeny. Standard pathology work-up on two mutants (78 or 128 days of age) revealed no abnormalities A colony needs 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. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.
|Allele Name||quivering 8 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||neuroscience mutagenesis facility, 379; NMF379|
|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.|