Pandolfi P P, Roth M E, Karis A, Leonard M W, Dzierzak E, Grosveld F G, Engel J D, Lindenbaum M H
Dept. of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Nat Genet. 1995 Sep;11(1):40-4. doi: 10.1038/ng0995-40.
GATA-3 is one member of a growing family of related transcription factors which share a strongly conserved expression pattern in all vertebrate organisms. In order to elucidate GATA-3 function using a direct genetic approach, we have disrupted the murine gene by homologous recombination in embryonic stem cells. Mice heterozygous for the GATA3 mutation are fertile and appear in all respects to be normal, whereas homozygous mutant embryos die between days 11 and 12 postcoitum (p.c.) and display massive internal bleeding, marked growth retardation, severe deformities of the brain and spinal cord, and gross aberrations in fetal liver haematopoiesis.
GATA-3是一个不断增加的相关转录因子家族的成员之一，这些转录因子在所有脊椎动物中都具有高度保守的表达模式。为了使用直接基因方法阐明GATA-3的功能，我们通过胚胎干细胞中的同源重组破坏了小鼠基因。GATA3突变的杂合子小鼠可育，在各方面看起来都正常，而纯合突变胚胎在受孕后（p.c.）第11至12天死亡，并出现大量内出血、明显的生长迟缓、脑和脊髓的严重畸形以及胎儿肝脏造血的严重异常。
