Urbánek P, Wang Z Q, Fetka I, Wagner E F, Busslinger M
Research Institute of Molecular Pathology, Vienna, Austria.
Cell. 1994 Dec 2;79(5):901-12. doi: 10.1016/0092-8674(94)90079-5.
The Pax5 gene, coding for the transcription factor BSAP, was mutated in the mouse germline by targeted disruption. Homozygous mutant mice were born alive, became growth retarded, and usually died within three weeks. About 5% of mutants survived to adulthood and were fertile, but severely runted. Morphogenesis of the posterior midbrain was affected as early as embryonic day 16.5, leading to a reduction of the inferior colliculus near the midline and to altered foliation of the anterior cerebellum. Moreover, all mutants failed to produce small pre-B, B, and plasma cells owing to a complete arrest of B cell development at an early precursor stage. These data define a key role for Pax5 in early B lymphopoiesis and midbrain patterning.
编码转录因子BSAP的Pax5基因在小鼠种系中通过靶向破坏发生突变。纯合突变小鼠出生时存活，但生长发育迟缓，通常在三周内死亡。约5%的突变体存活至成年且可育，但严重发育不良。早在胚胎第16.5天，中脑后部的形态发生就受到影响，导致中线附近的下丘减少以及前小脑的叶形成改变。此外，由于B细胞发育在早期前体阶段完全停滞，所有突变体均无法产生小前B细胞、B细胞和浆细胞。这些数据确定了Pax5在早期B淋巴细胞生成和中脑模式形成中的关键作用。
