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The Journal of Heredity 1987:78(6):353-356
© 1987 The American Genetic Association 78:353-356

research-article

Spasmodic, a mutation on chromosome 11 in the mouse

P. W. Lane, A. L. Ganser, A.-L. Kerner, and W. F. White

Jackson Laboratory Bar Harbor, ME 04609
Department of Neuroscience, Children's Hospital and the Department of Neuropathology, Harvard Medical School 300 Longwood Avenue, Boston, MA. 02115

Abstract

A new recessive mutation, spasmodic (spd), producing behavior that mimics that of the neurological mutation spastic (spa) with rapid tremors, stiff posture, and difficulty in righting, arose spontaneously in strain A/HeJ at the Jackson Laboratory in 1979. It is not an allele of spa and linkage tests show that this mutation is located close to vestiglal tall (vt) near the center of chromosome 11. Additional genetic tests show that it is not an allele of trembler (Tr), shaker-2 (sh-2), nor vibrator (vb), all neurological mutations located in the same region of chromosome 11. No differences were observed in the levels of the major CNS and PNS myelin proteins or lipids of spd/spd mice versus Uttermate controls, suggesting that, unlike several closely linked mutations, the spd mutation does not affect myelination. Pharmacological studies reported here show that aminooxyacetlc acid improves the behavioral abnormalities of affected spd/spd mice in the same way it improves the behavior of affected spa/spa mice. However, unlike the spa/spa mice, there are no changes in the postsynaptic receptors for glycine, GABA, or benzodlazeplnes in spd/spd mice.


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