title: Cardiomyopathy in mice with paternal uniparental disomy for chromosome 12.
abstract: Mice inheriting both copies of MMU12 either maternally or paternally demonstrate imprinting effects. Whereas maternal uniparental disomy 12 (matUPD12) fetuses are growth retarded and die perinatally, paternal UPD12 (patUPD12) fetuses die during late gestation and exhibit placentomegaly and skeletal muscle maturation defects. To examine further the developmental consequences of UPD12, we intercrossed mouse stocks heterozygous for Robertsonian translocation chromosomes (8.12) and (10.12). We report that at 13.5-14.5 dg patUPD12 hearts exhibit increased ventricular diameter, thinner, less compact myocardium, and deep intertrabecular recesses when compared to controls. These data provide evidence for cardiac failure, a lethal condition, and suggest a role for an imprinted gene(s) in normal heart development.
authors.affiliation: Department of Pediatrics, University of California, San Francisco, California 94143-0748, USA. avillar@itsa.ucsf.edu
authors.forename: A J
authors.initials: AJ
authors.lastname: Villar
authors.forename: E J
authors.initials: EJ
authors.lastname: Carlson
authors.forename: A M
authors.initials: AM
authors.lastname: Gillespie
authors.forename: P C
authors.initials: PC
authors.lastname: Ursell
authors.forename: C J
authors.initials: CJ
authors.lastname: Epstein
mesh_terms: D000818:Animals; D009202:Cardiomyopathies / Q000196:embryology* / Q000235:genetics*; D002869:Chromosome Aberrations / Q000196:embryology / Q000235:genetics*; D003433:Crosses, Genetic; D005260:Female; D005313:Fetal Death / Q000235:genetics; D018392:Genomic Imprinting / Q000235:genetics*; D006321:Heart / Q000196:embryology; D006579:Heterozygote; D007621:Karyotyping; D008297:Male; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D009206:Myocardium / Q000378:metabolism / Q000473:pathology*; D014178:Translocation, Genetic / Q000235:genetics