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Spasmodic, a mutation on chromosome 11 in the mouse
P W Lane1, A L Ganser, A L Kerner
1Jackson Laboratory, Bar Harbor, ME 04609.
The Journal of Heredity
|November 1, 1987
Summary
A new spasmodic (spd) mutation in mice causes neurological symptoms similar to the spastic (spa) mutation. Aminooxyacetic acid treatment improved spd/spd mouse behavior, but without affecting neurotransmitter receptors.
Area of Science:
- Neurogenetics
- Behavioral Genetics
- Mouse Models of Neurological Disorders
Background:
- A novel recessive mutation, spasmodic (spd), emerged spontaneously in A/HeJ mice.
- spd exhibits behavioral phenotypes resembling the neurological mutation spastic (spa), including tremors and postural instability.
Purpose of the Study:
- To characterize the genetic and phenotypic properties of the spasmodic (spd) mutation.
- To investigate the underlying molecular mechanisms and potential therapeutic interventions for spd-associated neurological dysfunction.
Main Methods:
- Genetic linkage analysis to map the spd mutation on mouse chromosome 11.
- Behavioral phenotyping of spd/spd mice.
- Biochemical analysis of central and peripheral nervous system myelin proteins and lipids.
- Pharmacological testing with aminooxyacetic acid.
- Neurotransmitter receptor binding assays.
Main Results:
- The spd mutation is located near the vestigial tail (vt) gene on chromosome 11 and is not allelic to spa, Tr, sh-2, or vb.
- spd/spd mice showed no alterations in major myelin proteins or lipids, suggesting normal myelination.
- Aminooxyacetic acid ameliorated behavioral abnormalities in spd/spd mice, similar to its effect on spa/spa mice.
- Unlike spa/spa mice, spd/spd mice did not exhibit changes in postsynaptic glycine, GABA, or benzodiazepine receptors.
Conclusions:
- The spasmodic (spd) mutation represents a new neurological mutation in mice with distinct genetic and molecular characteristics.
- While sharing behavioral similarities and a similar therapeutic response to aminooxyacetic acid with the spastic (spa) mutation, spd does not appear to involve alterations in key neurotransmitter receptors or myelination defects.