| First Author | Mi W | Year | 2003 |
| Journal | Mutat Res | Volume | 526 |
| Issue | 1-2 | Pages | 33-7 |
| PubMed ID | 12714180 | Mgi Jnum | J:83200 |
| Mgi Id | MGI:2658712 | Doi | 10.1016/s0027-5107(03)00011-3 |
| Citation | Mi W, et al. (2003) Stable inheritance of an 85-kb triplication in C57BL/WldS mice. Mutat Res 526(1-2):33-7 |
| abstractText | The slow Wallerian degeneration mouse, C57BL/Wld(S), carries a dominant mutation that delays Wallerian degeneration in the distal stump of an injured axon. A highly unusual mutation, an 85-kb tandem triplication in the Wld(S) mouse was identified. Since two duplication cases have been identified before, pulsed field gel electrophoresis (PFGE) can be used to look for the instability of triplication at the chromosomal level. One hundred and eighty chromosomes of Wld(S) from three divergent breeding colonies have been examined and all found to carry the triplication. Thus, the triplication mutation is stable during both mitosis and meiosis, and the previously observed duplication is likely to have been surviving alleles of the original mutation rather than a partial reversion. The triplication has now been shown to be the causative mutation, acting through an Ube4b/Nmnat chimeric gene, indicating the possibility of Wld(S) preventing axon degeneration in diverse pathologies and altering the symptoms. The fact that triplication is stable rules out instability as a source of phenotypic variation. Thus, this result is essential for accurate interpretation of studies the effect of Wld(S) on neurodegenerative phenotypes. |
