Couldrey C, Carlton M B, Ferrier J, Colledge W H, Evans M J
Department of Physiology, University of Cambridge, United Kingdom.
Dev Dyn. 1998 Jun;212(2):284-92. doi: 10.1002/(SICI)1097-0177(199806)212:2<284::AID-AJA13>3.0.CO;2-4.
Gene trapping with the retroviral ROSA beta geo vector was used to generate lines of mice carrying disrupted genes. Both cDNA and genomic flanks have been cloned from a number of these lines. One mutation has been shown to disrupt the alpha-enolase gene by insertion of the splice-trap vector into the first intron. In adult mice, lacZ expression was detected only in testes. Embryonic expression was detected from 10.5-day postcoitum embryos and was seen as a diffuse staining pattern over much of the embryo, consistent with the housekeeping gene function of alpha-enolase. This mutation results in an early recessive embryonic lethality. Mice heterozygous for the mutation have no obvious phenotype. Mutations of this gene in humans are reported to be associated with rare autosomal-dominant, non-spherocytic haemolytic anaemia. This phenotype is not reproduced in mice heterozygous for this mutation.
利用逆转录病毒ROSA β geo载体进行基因捕获，以产生携带基因破坏的小鼠品系。已从许多这些品系中克隆出cDNA和基因组侧翼序列。已证明一种突变通过将剪接捕获载体插入第一个内含子来破坏α-烯醇化酶基因。在成年小鼠中，仅在睾丸中检测到lacZ表达。从妊娠10.5天的胚胎中检测到胚胎期表达，并且在胚胎的大部分区域呈现弥漫性染色模式，这与α-烯醇化酶的管家基因功能一致。这种突变导致早期隐性胚胎致死。该突变的杂合子小鼠没有明显的表型。据报道，人类中该基因的突变与罕见的常染色体显性非球形细胞溶血性贫血有关。在该突变的杂合子小鼠中未再现这种表型。
