A haplolethal locus uncovered by deletions in the mouse T complex.
Document Type
Article
Publication Date
2002
First Page
675
Last Page
682
JAX Source
Genetics 2002 Feb;160(2):675-82.
Abstract
Proper levels of gene expression are important for normal mammalian development. Typically, altered gene dosage caused by karyotypic abnormalities results in embryonic lethality or birth defects. Segmental aneuploidy can be compatible with life but often results in contiguous gene syndromes. The ability to manipulate the mouse genome allows the systematic exploration of regions that are affected by alterations in gene dosage. To explore the effects of segmental haploidy in the mouse t complex on chromosome 17, radiation-induced deletion complexes centered at the Sod2 and D17Leh94 loci were generated in embryonic stem (ES) cells. A small interval was identified that, when hemizygous, caused specific embryonic lethal phenotypes (exencephaly and edema) in most fetuses. The penetrance of these phenotypes was background dependent. Additionally, evidence for parent-of-origin effects was observed. This genetic approach should be useful for identifying genes that are imprinted or whose dosage is critical for normal embryonic development.
Recommended Citation
Browning VL,
Bergstrom RA,
Daigle S,
Schimenti JC.
A haplolethal locus uncovered by deletions in the mouse T complex. Genetics 2002 Feb;160(2):675-82.