Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles.
Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles.
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家鼠显性白斑 (W) 基因座的多效性分析：十个新 W 等位基因的描述。
DOI：
10.1093/genetics/97.2.337
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发表时间：
1981
期刊：
影响因子：
3.3
通讯作者：
Russell,ES
中科院分区：
文献类型：
--
作者：
Geissler,EN;McFarland,EC;Russell,ES
表征的10个新的puttiveW位点突变，9 co-isogenic和一个高度同源的C57 BL/6 J菌株的多效性效应，揭示了各种各样的影响色素沉着，血液形成和配子发生。没有一个假定的等位基因，每个都是紧密连锁的Ph，一个基因0.1cM从W，提供了证据的互补与W39，一个新的等位基因，以前被证明是等位的Wv。所有W */W39基因型导致黑眼-白色贫血，配子发生活性降低。1这些突变中的7个的纯合子在围产期是致命的;贫血胚胎已被确定在涉及这些等位基因中的每一个的交叉交配产生的窝。- 几种突变基因型的小鼠的表型提供了对频繁观察的例外，即双倍剂量的显性Walleles（例如，W/W或W/W）导致三种受影响组织中的每一种的相应严重度的缺陷。一个活的纯合子在血液形成方面几乎没有缺陷，另一个似乎有正常的生育能力。这些纯合子的表型支持的结论，这三个组织缺陷是不依赖于彼此的外观，可能不会导致从一个单一的生理障碍在胚胎的发展。- 虽然该系列成员的纯合性导致了广泛的表型，但没有任何等位基因与W39互补，每个突变体与Ph非常接近，以及所有等位基因在受Wd和Wv影响的相同组织中产生可检测到的（尽管有时是边缘的）缺陷的事实，支持了每个新突变基因都是Wallele的假设。
Characterization of the pleiotropic effects of ten new putativeWlocus mutations, nine co-isogenic and one highly congenic with the C57BL/6J strain, reveals a wide variety of influences upon pigmentation, blood formation and gametogenesis. None of the putative alleles, each of which is closely linked toPh, a gene 0.1 cM fromW, gave evidence of complementation withW39, a new allele previously shown to be allelic toWv. AllW*/W39genotypes resulted in black-eyed-white anemics with reduced gametogenic activity.1Homozygotes for seven of these mutations are lethal during perinatal life; anemic embryos have been identified in litters produced by intercross matings involving each of these alleles. —Phenotypes of mice of several mutant genotypes provide exceptions to the frequent observation that a double dose of dominantWalleles (e.g., W/WvorW/W) results in defects of corresponding severity in each of the three affected tissues. One viable homozygote has little or no defect in blood formation, and another appears to have normal fertility. The phenotypes of these homozygotes support the conclusion that the three tissue defects are not dependent on each other for their appearance and probably do not result from a single physiological disturbance during the development of the embryo. —Although homozygosity for members of this series results in a wide range of phenotypes, the absence of complementation of any allele withW39, the close proximity of each mutant toPh, and the fact that all alleles produce detectable (though sometimes marginal) defects in the same tissues affected byWandWv, support the hypothesis that each new mutant gene is aWallele.