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Publication : The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice.

First Author  Dautigny A Year  1986
Journal  Nature Volume  321
Issue  6073 Pages  867-9
PubMed ID  2425262 Mgi Jnum  J:8332
Mgi Id  MGI:56800 Doi  10.1038/321867a0
Citation  Dautigny A, et al. (1986) The structural gene coding for myelin-associated proteolipid protein is mutated in jimpy mice. Nature 321(6073):867-9
abstractText  Mutations affecting developmental processes may allow some insight into the complexity of the biological processes involved. In mice, two mutants that affect myelin formation in the central nervous system, jimpy and shiverer, have proved to be useful models for the study of this process. The predominant proteins in myelin are the major myelin proteolipid (PLP) and the myelin basic proteins (MBP), which together account for 80-90% of total myelin proteins. It has recently been shown that the shiverer mutation is located in the MBP structural gene, but the site of the jimpy mutation, which is X-chromosome-linked and may be similar to the sex-linked dismyelinization human disease, Pelizaeus-Merzbacher disease, remains unclear. Here we provide evidence, based on a combined genetic and biochemical approach, that the sex-linked recessive mutation jimpy is located in the structural gene coding for PLP.
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