Otani H, Tanaka O, Naora H, Yokoyama M, Nomura T, Kimura M, Katsuki M
Department of Anatomy, Shimane Medical University, Izumo, Japan.
Anat Anz. 1991;172(1):1-9.
Microtia was found in a transgenic mouse 643 and all offspring with microtia had the transgene. No anomalies, other than occasional low set ear and abnormal biting, were identified in other tissues and organs. In the developmental analysis, on the 9th and 10th days of gestation, hypoplasia of the second branchial arch was observed, while various kinds of malformed hillocks were noted on the 12th day. All of these anomalous embryos were transgenic. Histologically, hemorrhage and subsequent phagocytosis were noted at the second branchial arch. Left sided anomalies were predominant and in bilaterally defective ones asymmetry existed. These findings closely resembled to those in experimental animals with a phenocopy of the first and second branchial arch syndrome in humans. Since all other transgenic mouse lines with the same transgene as 643 appeared normal, this dysmorphic phenotype may be caused by an insertional mutation of a host gene, although inappropriate expression of the transgene should be examined further as a possible cause. These results suggest that this transgenic mouse line 643 may be useful as an animal model of branchial arch anomalies in humans.
在一只转基因小鼠643中发现了小耳畸形，所有患有小耳畸形的后代都携带该转基因。除了偶尔出现的低位耳和异常咬噬外，在其他组织和器官中未发现异常。在发育分析中，妊娠第9天和第10天观察到第二鳃弓发育不全，而在第12天发现了各种畸形的小丘。所有这些异常胚胎都是转基因的。组织学上，在第二鳃弓处观察到出血和随后的吞噬作用。左侧异常占主导，双侧缺陷的胚胎存在不对称性。这些发现与人类第一和第二鳃弓综合征表型模拟的实验动物的发现非常相似。由于所有其他与643具有相同转基因的转基因小鼠品系看起来正常，这种畸形表型可能是由宿主基因的插入突变引起的，尽管转基因的不适当表达作为可能的原因应进一步研究。这些结果表明，这种转基因小鼠品系643可用作人类鳃弓异常的动物模型。
