Boles Melissa K, Wilkinson Bonney M, Maxwell Andrea, Lai Lihua, Mills Alea A, Nishijima Ichiko, Salinger Andrew P, Moskowitz Ivan, Hirschi Karen K, Liu Bin, Bradley Allan, Justice Monica J
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
BMC Genet. 2009 Mar 6;10:12. doi: 10.1186/1471-2156-10-12.
ENU-mutagenesis is a powerful technique to identify genes regulating mammalian development. To functionally annotate the distal region of mouse chromosome 4, we performed an ENU-mutagenesis screen using a balancer chromosome targeted to this region of the genome.
We isolated 11 lethal lines that map to the region of chromosome 4 between D4Mit117 and D4Mit281. These lines form 10 complementation groups. The majority of lines die during embryonic development between E5.5 and E12.5 and display defects in gastrulation, cardiac development, and craniofacial development. One line displayed postnatal lethality and neurological defects, including ataxia and seizures.
These eleven mutants allow us to query gene function within the distal region of mouse chromosome 4 and demonstrate that new mouse models of mammalian developmental defects can easily and quickly be generated and mapped with the use of ENU-mutagenesis in combination with balancer chromosomes. The low number of mutations isolated in this screen compared with other balancer chromosome screens indicates that the functions of genes in different regions of the genome vary widely.
ENU诱变是一种用于鉴定调控哺乳动物发育基因的强大技术。为了对小鼠4号染色体的远端区域进行功能注释,我们使用靶向该基因组区域的平衡染色体进行了ENU诱变筛选。
我们分离出11个致死系,它们定位于4号染色体上D4Mit117和D4Mit281之间的区域。这些品系形成10个互补群。大多数品系在胚胎发育的E5.5至E12.5期间死亡,并在原肠胚形成、心脏发育和颅面发育方面表现出缺陷。一个品系表现出出生后致死性和神经缺陷,包括共济失调和癫痫发作。
这11个突变体使我们能够研究小鼠4号染色体远端区域内的基因功能,并证明利用ENU诱变结合平衡染色体,可以轻松快速地生成和定位哺乳动物发育缺陷的新小鼠模型。与其他平衡染色体筛选相比,本筛选中分离出的突变数量较少,这表明基因组不同区域的基因功能差异很大。