MAPPING THE MOUSE DACTYLAPLASIA MUTATION, DAC, AND A GENE THAT CONTROLS ITS EXPRESSION, MDAC
MAPPING THE MOUSE DACTYLAPLASIA MUTATION, DAC, AND A GENE THAT CONTROLS ITS EXPRESSION, MDAC
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DOI：
10.1006/geno.1995.9981
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发表时间：
1995-09-20
期刊：
影响因子：
4.4
通讯作者：
DAVISSON, MT
中科院分区：
文献类型：
--
作者：
JOHNSON, KR;LANE, PW;DAVISSON, MT
趾突发育不全是一种遗传性的小鼠肢体畸形，其表现明显依赖于两个基因的相互作用，因此是研究这种基因在体内相互作用的一个很好的模型系统。Dac突变作为半显性性状遗传，可能是某些形式的人类外阴畸形的模型。杂合子显示每只脚上没有趾；长骨是正常的。在发生突变的SM/Ckc背景下，Dac纯合子在出生前后死亡。我们通过回交分离分析将Dac定位到Chr 19的远端。然后使用一个紧密连锁的标记来区分胚胎和成体的+/+、Dac/+和Dac/Dac基因型。当与NZB/BINJ菌株杂交时，Dac纯合子显示出活力和可育性，但比杂合子有更严重的肢体畸形（只剩下一个手指）。Dac/+和Dac/Dac小鼠异常肢体表型的表达也取决于另一个非连锁基因mdac的隐性等位基因的纯合性，该基因在近交小鼠品系中是多态性的。通过对重组自交系和回交后代的分离分析，我们将mdac定位在Chr 13的中间位置。(C) 1995学术出版社，Inc。
Dactylaplasia is an inherited mouse limb malformation whose manifestation is clearly dependent on the interaction of two genes and thus represents an excellent model system for studying such gene interactions in vivo. The Dac mutation is inherited as a semidominant trait and may be a model for some forms of human ectrodactyly. Heterozygotes show absence of digits on each foot; the long bones are normal. On the SM/Ckc background on which the mutation occurred, Dac homozygotes die around birth. We mapped Dac to the distal end of Chr 19 by backcross segregation analysis. A closely linked marker was then used to distinguish +/+, Dac/+, and Dac/Dac genotypes of embryos and adults. When intercrossed with the NZB/BINJ strain, Dac homozygotes were shown to be viable and fertile, but had a more severe limb malformation (only a single remaining digit) than heterozygotes. Expression of the abnormal limb phenotypes of Dac/+ and Dac/Dac mice also depends on homozygosity for a recessive allele of another unlinked gene, mdac, that is polymorphic among inbred mouse strains. We mapped mdac to the middle of Chr 13 by segregation analysis of both recombinant inbred strains and backcross progeny. (C) 1995 Academic Press, Inc.