INHERITED ATELIOTIC DWARFISM IN MICE - CHARACTERISTICS OF MUTATION, LITTLE, ON CHROMOSOME-6
INHERITED ATELIOTIC DWARFISM IN MICE - CHARACTERISTICS OF MUTATION, LITTLE, ON CHROMOSOME-6
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DOI：
10.1093/oxfordjournals.jhered.a108682
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发表时间：
1976-01-01
影响因子：
3.1
通讯作者：
BEAMER, WG
中科院分区：
文献类型：
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作者：
EICHER, EM;BEAMER, WG
在小鼠中发现了一个新的常染色体隐性突变，little (lit)，位于6号染色体上。纯合子状态下的突变会导致萎缩性侏儒症，在15日龄时通过体重下降首次被发现。长骨长度明显减少。然而，头骨宽度不受影响。雌性小老鼠是完全可生育的；它们可能会失去第一批幼崽。虽然大多数小雄性会产下1或2胎，但它们很少产下第三胎。对丙烯酰胺凝胶电泳的垂体提取物的分析显示，在雄性和雌性小小鼠中，两种垂体前激素GH（生长激素）和PRL（催乳素）显著减少。由于这只小老鼠与人类非萎缩性侏儒症（分离性生长激素缺乏症I型）有许多相似之处，它可能是研究这种遗传性人类生长障碍的有用动物模型。
A new autosomal recessive mutation in the mouse, little (lit), was shown to be located on chromosome 6. The mutation in the homozygous state causes ateliotic dwarfism that is 1st detected at 15 days of age by decreased body weight. Long bone lengths are significantly reduced. Skull width, however, is not affected. Female little mice are fully fertile; they may lose their 1st litters. Although most of the little males sire 1 or 2 litters, they rarely sire a 3rd litter. Analysis of pituitary extracts electrophoresed on acrylamide gels reveal a significant reduction of the 2 anterior pituitary hormones, GH [growth hormone] and PRL [prolactin], in both male and female little mice. Because the little mouse shares a number of similarities with the human ateliotic dwarfism, isolated growth hormones deficiency type I, it may be a useful animal model for this inherited human growth disorder.