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Rumpshaker mouse: a new X-linked mutation affecting myelination: evidence for a defect in PLP expression
I R Griffiths1, I Scott, M C McCulloch
1Department of Veterinary Surgery, University of Glasgow, UK.
Journal of Neurocytology
|April 1, 1990
Summary
A new X-linked mutation in mice, rumpshaker (rsh), causes hypomyelination due to defects in proteolipid protein (PLP) expression. Affected mice show increased oligodendrocytes but are viable and fertile.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- X-linked mutations can cause central nervous system (CNS) hypomyelination.
- Proteolipid protein (PLP) is crucial for normal myelin sheath development.
Purpose of the Study:
- To characterize a novel X-linked mutation, rumpshaker (rsh), in mice.
- To investigate the underlying molecular and cellular mechanisms of hypomyelination in rsh mice.
Main Methods:
- Phenotypic analysis of rsh mice, including myelination assessment.
- Immunohistochemical analysis of myelin proteins, specifically PLP/DM-20.
- Genetic mapping to determine the mutation's locus.
Main Results:
- The rsh mutation leads to hypomyelination, with impaired myelin sheath development despite normal initiation.
- Oligodendrocytes are increased in number and exhibit prominent cellular organelles.
- A significant defect in PLP expression was identified, with minimal PLP in myelin sheaths.
- Genetic analysis placed the rsh locus near the PLP/jimpy (jp) locus.
Conclusions:
- The rumpshaker mutation disrupts PLP expression, causing X-linked hypomyelination in mice.
- rsh mice exhibit distinct characteristics compared to jimpy mice, including normal longevity and fertility.
- This mutation provides a valuable model for studying PLP-related dysmyelinating disorders.