期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1991
卷号：88
期号：22
页码：10327-10331
DOI：10.1073/pnas.88.22.10327
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：While examining a series of transgenic mouse lines carrying the HCK protooncogene, we encountered one line in which males hemizygous for the transgene were sterile. The sterile males mated normally but failed to impregnate females. Light and electron microscopy revealed that spermatogenesis proceeds normally until nuclear condensation, which occurs but gives rise to a variety of abnormally shaped nuclei. Expression of the transgene was not detectable. Thus, the insertion itself probably caused the abnormal phenotype by disrupting a gene (or genes) important in spermatogenesis. The mutation is genetically dominant, causing an abnormal phenotype even though the sterile mice carry an ostensibly normal counterpart of the disrupted locus. The mutant phenotype is completely penetrant only in some genetic backgrounds, suggesting a modifying influence from a second locus. Junctions between the inserted transgene and adjoining cellular DNA were cloned, allowing us to confirm the heterozygous nature of the genetic disruption and to detect and associated deletion. We have designated the mutation Lvs (lacking vigorous sperm) and presume that it may define a previously undescribed locus important in spermatogenesis.
