| First Author | Nave KA | Year | 1987 |
| Journal | J Neurochem | Volume | 49 |
| Issue | 6 | Pages | 1873-7 |
| PubMed ID | 2445921 | Mgi Jnum | J:42978 |
| Mgi Id | MGI:1096820 | Doi | 10.1111/j.1471-4159.1987.tb02449.x |
| Citation | Nave KA, et al. (1987) A single nucleotide difference in the gene for myelin proteolipid protein defines the jimpy mutation in mouse. J Neurochem 49(6):1873-7 |
| abstractText | We have previously shown that, in the myelin-deficient jimpy mutant mouse, 74 nucleotides are absent from the mRNA for proteolipid protein (PLP) as a result of aberrant RNA processing. To define the exact site of the jimpy mutation, we have analyzed the PLP gene obtained from a jimpy mouse genomic library. We find that the nucleotide sequence that is absent from jimpy PLP mRNA is fully preserved in the jimpy PLP gene. The missing segment corresponds to a separate exon, equivalent to exon 5 of the human PLP gene. The nucleotide sequence at the 3' end of intron 4 in the jimpy PLP gene contains a single point mutation. A base change A----G in the 3' acceptor splice site has altered a position that is 100% conserved in all published splice acceptor sequences. We conclude that the primary genetic defect of the jimpy mouse is a single base change in the PLP gene disabling an invariant recognition sequence of RNA splicing. |
