Benson K F, Chada K
Department of Biochemistry, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Piscataway 08854-5635.
Genet Res. 1994 Aug;64(1):27-33. doi: 10.1017/s0016672300032511.
A phenotypic analysis was performed on two alleles at the pygmy locus which arose by insertional mutagenesis in transgenic mice. Similar to the spontaneous mutant pygmy, the adult insertional transgenic mutants are 40% of the size of wild-type litter-mates whereas adult heterozygotes are 80% of wild-type litter-mates. An analysis of the various organs revealed that, in general, there was a reduction in weight of each organ commensurate with the overall reduction in body size. However, two organs did not follow this pattern, the brain being disproportionately larger and the adrenals disproportionately smaller in the mutant mice. In addition, mini-mice have less adipose tissue than their wild-type or heterozygous litter-mates. A developmental analysis determined that mutants could first be identified on the basis of reduced body weight at day 15.5 of gestation. The small size is not due to a growth hormone deficiency so these mice differ from other known dwarf mouse mutants. Therefore they should provide insight into the growth hormone-resistant human dwarfisms and help in furthering our knowledge of mammalian growth and development.
对通过转基因小鼠插入诱变产生的侏儒基因座上的两个等位基因进行了表型分析。与自发突变的侏儒小鼠相似,成年插入转基因突变体的体型是野生型同窝小鼠的40%,而成年杂合子是野生型同窝小鼠的80%。对各个器官的分析表明,一般来说,每个器官的重量都随着体型的整体减小而减轻。然而,有两个器官不符合这种模式,突变小鼠的大脑相对较大,肾上腺相对较小。此外,迷你小鼠的脂肪组织比其野生型或杂合子同窝小鼠少。发育分析确定,在妊娠第15.5天,突变体首先可以根据体重减轻来识别。体型小不是由于生长激素缺乏,因此这些小鼠与其他已知的侏儒小鼠突变体不同。因此,它们应该有助于深入了解对生长激素抵抗的人类侏儒症,并有助于增进我们对哺乳动物生长和发育的认识。