| First Author | Cattanach BM | Year | 1997 |
| Journal | Mamm Genome | Volume | 8 |
| Issue | 7 | Pages | 472-8 |
| PubMed ID | 9195990 | Mgi Jnum | J:41347 |
| Mgi Id | MGI:893791 | Doi | 10.1007/s003359900479 |
| Citation | Cattanach BM, et al. (1997) A candidate model for Angelman syndrome in the mouse. Mamm Genome 8(7):472-8 |
| abstractText | Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are well-recognized examples of imprinting in humans. They occur most commonly with paternal and maternal 15q11-13 deletions, but also with maternal and paternal disomy. Both syndromes have also occurred more rarely in association with smaller deletions seemingly causing abnormal imprinting. A putative mouse model of PWS, occurring with maternal duplication (partial maternal disomy) for the homologous region, has been described in a previous paper but, although a second imprinting effect that could have provided a mouse model of AS was found, it appeared to be associated with a slightly different region of the chromosome. Here, we provide evidence that the same region is in fact involved and further demonstrate that animals with paternal duplication for the region exhibit characteristics of AS patients. A mouse model of AS is, therefore, strongly indicated. |
