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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Jimpy 4J: a new X-linked mouse mutation producing severe CNS hypomyelination.

This study describes a new sex-linked myelin mutation in the mouse, jimpy 4J (Plpjp-4J), located in or very close to the proteolipid protein (Plp) gene. The Plpjp-4J/Y phenotype includes tremor, seizures, death during the 4th postnatal week, and the most severe central nervous system hypomyelination yet described in any mouse carrying a single myelin mutation. The few myelin sheaths are present in early myelinating areas where they form clusters of thin, usually loosely wrapped membranes which show several variations of morphology at their extracellular leaflets. Numbers of mature oligodendrocytes are sharply reduced; pycnotic glial nuclei and foamy cells are numerous. Astrocytosis is a prominent feature. No PLP protein is detected by immunoblotting in Plpjp-4J/Y brain but in spinal cord a faint band is present. Myelin basic protein and characteristic myelin lipids are also sharply reduced in both brain and spinal cord. Despite the qualitative similarity of the phenotypes reported in these and previous studies, DNA analysis demonstrate that Plpjp-4J is not a recurrence of the well known Plp mouse mutations jimpy (Plpjp) or myelin synthesis deficiency (Plpjp-msd).[1]

References

  1. Jimpy 4J: a new X-linked mouse mutation producing severe CNS hypomyelination. Billings-Gagliardi, S., Kirschner, D.A., Nadon, N.L., DiBenedetto, L.M., Karthigasan, J., Lane, P., Pearsall, G.B., Wolf, M.K. Dev. Neurosci. (1995) [Pubmed]
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