Cardiomyopathy in mice with paternal uniparental disomy for chromosome 12

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...

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Bibliographic Details
Published in:Genesis (New York, N.Y. : 2000) N.Y. : 2000), 2001-08, Vol.30 (4), p.274-279
Main Authors: Villar, A.J., Carlson, E.J., Gillespie, A.M., Ursell, P.C., Epstein, C.J
Format: Article
Language:English
Subjects:
Animals
Cardiomyopathies - embryology
Cardiomyopathies - genetics
cardiomyopathy
chromosome 12
Chromosome Aberrations - embryology
Chromosome Aberrations - genetics
Crosses, Genetic
disomy
Female
Fetal Death - genetics
genomic imprinting
Genomic Imprinting - genetics
Heart - embryology
Heterozygote
Karyotyping
Male
Mice
Mice, Inbred BALB C
Mice, Inbred C57BL
MMU12 gene
Myocardium - metabolism
Myocardium - pathology
Translocation, Genetic - genetics
uniparental disomy
UPD12 gene
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Summary: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. genesis 30:274–279, 2001. © 2001 Wiley‐Liss, Inc.
ISSN:1526-954X
1526-968X
DOI:10.1002/gene.1074