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A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome.基于全基因组鸟枪法测序得到的小鼠16号染色体与人类基因组的比较。
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Functional annotation of mammalian genomic DNA sequence by chemical mutagenesis: a fine-structure genetic mutation map of a 1- to 2-cM segment of mouse chromosome 7 corresponding to human chromosome 11p14-p15.通过化学诱变对哺乳动物基因组DNA序列进行功能注释:小鼠7号染色体上对应于人类11号染色体p14 - p15的1至2厘摩区段的精细结构基因突变图谱。
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Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.缺失迪乔治/心脏颜面综合征区域的小鼠表现出异常的感觉运动门控以及学习和记忆障碍。
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Genetic analysis of the organic cation transporter genes Orct2/Slc22a2 and Orct3/Slc22a3 reduces the critical region for the t haplotype mutant t(w73) to 200 kb.对有机阳离子转运体基因Orct2/Slc22a2和Orct3/Slc22a3的遗传分析将t单倍型突变体t(w73)的关键区域缩小至200 kb。
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C57BL/6J-T-associated sex reversal in mice is caused by reduced expression of a Mus domesticus Sry allele.C57BL/6J小鼠中与T相关的性反转是由家鼠Sry等位基因表达降低引起的。
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9
DelBank: a mouse ES-cell resource for generating deletions.DelBank:一个用于产生缺失的小鼠胚胎干细胞资源。
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10
Experimental and computational approaches yield a high-resolution, 1-Mb physical map of the region harboring the mouse t haplotype sterility factor, tcs1.
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跨越小鼠t复合体近端三分之二区域的重叠缺失。

Overlapping deletions spanning the proximal two-thirds of the mouse t complex.

作者信息

Bergstrom David E, Bergstrom Rebecca A, Munroe Robert J, Lee Barbara K, Browning Victoria L, You Yun, Eicher Eva M, Schimenti John C

机构信息

The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA.

出版信息

Mamm Genome. 2003 Dec;14(12):817-29. doi: 10.1007/s00335-003-2298-4.

DOI:10.1007/s00335-003-2298-4
PMID:14724736
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2583125/
Abstract

Chromosome deletion complexes in model organisms serve as valuable genetic tools for the functional and physical annotation of complex genomes. Among their many roles, deletions can serve as mapping tools for simple or quantitative trait loci (QTLs), genetic reagents for regional mutagenesis experiments, and, in the case of mice, models of human contiguous gene deletion syndromes. Deletions also are uniquely suited for identifying regions of the genome containing haploinsufficient or imprinted loci. Here we describe the creation of new deletions at the proximal end of mouse Chromosome (Chr) 17 by using the technique of ES cell irradiation and the extensive molecular characterization of these and previously isolated deletions that, in total, cover much of the mouse t complex. The deletions are arranged in five overlapping complexes that collectively span about 25 Mbp. Furthermore, we have integrated each of the deletion complexes with physical data from public and private mouse genome sequences, and our own genetic data, to resolve some discrepancies. These deletions will be useful for characterizing several phenomena related to the t complex and t haplotypes, including transmission ratio distortion, male infertility, and the collection of t haplotype embryonic lethal mutations. The deletions will also be useful for mapping other loci of interest on proximal Chr 17, including T-associated sex reversal ( Tas) and head-tilt ( het). The new deletions have thus far been used to localize the recently identified t haplolethal ( Thl1) locus to an approximately 1.3-Mbp interval.

摘要

模式生物中的染色体缺失复合体是对复杂基因组进行功能和物理注释的重要遗传工具。在它们众多的作用中,缺失可作为简单或数量性状基因座(QTL)的定位工具、区域诱变实验的遗传试剂,在小鼠中还可作为人类相邻基因缺失综合征的模型。缺失也特别适合用于鉴定基因组中包含单倍剂量不足或印记基因座的区域。在此,我们描述了利用胚胎干细胞辐射技术在小鼠17号染色体(Chr)近端创建新的缺失,以及对这些缺失和先前分离的缺失进行广泛的分子特征分析,这些缺失总共覆盖了小鼠t复合体的大部分区域。这些缺失被排列成五个重叠复合体,共同跨越约25兆碱基对。此外,我们已将每个缺失复合体与来自公共和私人小鼠基因组序列的物理数据以及我们自己的遗传数据整合起来,以解决一些差异。这些缺失将有助于表征与t复合体和t单倍型相关的几种现象,包括传递比率畸变、雄性不育以及t单倍型胚胎致死突变的收集。这些缺失也将有助于在17号染色体近端定位其他感兴趣的基因座,包括T相关性别反转(Tas)和头部倾斜(het)。到目前为止,新的缺失已被用于将最近鉴定的t单倍体致死(Thl1)基因座定位到一个约1.3兆碱基对的区间。