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PMID: 9195990 Published · ppublish English Journal Article

A candidate model for Angelman syndrome in the mouse.

Mammalian genome : official journal of the International Mammalian Genome Society ·Vol. 8 ·No. 7 ·1997-07-00 ·Pages 472-8

Cattanach BM, Barr JA, Beechey CV, Martin J, Noebels J, Jones J

Abstract

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.

MeSH Terms
Aneuploidy Angelman Syndrome/genetics Animals Animals, Newborn Autoantigens/genetics Behavior, Animal Brain/physiopathology Disease Models, Animal Electroencephalography/methods Embryo, Mammalian/physiology Female Genomic Imprinting Humans Male Mice Mice, Mutant Strains/genetics Obesity/genetics Organ Size/genetics Paternity Phenotype Ribonucleoproteins, Small Nuclear Translocation, Genetic snRNP Core Proteins
Chemicals
Autoantigens Ribonucleoproteins, Small Nuclear snRNP Core Proteins
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Cattanach B M
Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxon OX11 ORD, UK.
Barr J A
Beechey C V
Martin J
Noebels J
Jones J
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Article Info
Journal
Mammalian genome : official journal of the International Mammalian Genome Society
Abbr.
Mamm Genome
ISSN
0938-8990
DOI
10.1007/s003359900479
Published
1997-07-00
Pages
472-8
Language
English
Region
United States
NLM ID
9100916
Subset
IM
Corrections
ErratumIn
-
External Links
PubMed source DOI: 10.1007/s003359900479 View journal details
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