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小鼠14号染色体无毛基因座的插入突变

Insertional mutation of the hairless locus on mouse chromosome 14.

作者信息

Jones J M, Elder J T, Simin K, Keller S A, Meisler M H

机构信息

Department of Human Genetics, University of Michigan, Ann Arbor 48109.

出版信息

Mamm Genome. 1993 Nov;4(11):639-43. doi: 10.1007/BF00360900.

Abstract

Crosses between heterozygous transgenic mice from line 5053 produced offspring with progressive irreversible hair loss beginning at day 19. With increasing age, the skin of these animals became thicker and plicated in appearance. Histological analysis revealed the complete absence of normal hair follicles and numerous intradermic cystic structures, which enlarged with time and became filled with keratinaceous material. Test crosses demonstrated that the affected animals are homozygous for the transgene insertion. The clinical and histological phenotype of the new mutant closely resembles that of the rhino allele at the hairless locus on Chromosome (Chr) 14. Complementation tests and linkage analysis indicate that the transgene has interrupted the hairless locus. It has been demonstrated previously that mutation at the hr locus is accompanied by a variety of immune deficiencies. Many of the older affected transgenic mice developed an impetigo-like skin eruption which responded to antibiotic ointment and which may reflect impaired immune function. The transgenic allele, hrTgN5053Mm, will be useful for identification of the transcription unit of the hairless locus.

摘要

来自5053系的杂合转基因小鼠杂交产生的后代在第19天开始出现进行性不可逆脱发。随着年龄增长,这些动物的皮肤变得更厚,外观呈褶皱状。组织学分析显示完全没有正常毛囊,有许多真皮内囊性结构,这些结构随时间增大并充满角质物质。测交表明受影响的动物对于转基因插入是纯合的。新突变体的临床和组织学表型与14号染色体(Chr)无毛位点的犀牛等位基因非常相似。互补试验和连锁分析表明转基因中断了无毛位点。先前已证明hr位点的突变伴有多种免疫缺陷。许多年龄较大的受影响转基因小鼠出现了脓疱样皮肤疹,对抗生素软膏有反应,这可能反映了免疫功能受损。转基因等位基因hrTgN5053Mm将有助于鉴定无毛位点的转录单位。

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