Molecular and functional mapping of the piebald deletion complex on mouse chromosome 14.
Molecular and functional mapping of the piebald deletion complex on mouse chromosome 14.
复制标题
小鼠 14 号染色体上花斑缺失复合体的分子和功能图谱。
DOI：
10.1093/genetics/157.2.803
复制
发表时间：
2001
期刊：
影响因子：
3.3
通讯作者：
O'Brien,TP
中科院分区：
文献类型：
--
作者：
Roix,JJ;Hagge-Greenberg,A;Bissonnette,DM;Rodick,S;Russell,LB;O'Brien,TP
The piebald deletion complex is a set of overlapping chromosomal deficiencies surrounding the endothelin receptor B locus collected during the Oak Ridge specific-locus-test mutagenesis screen. These chromosomal deletions represent an important resource for genetic studies to dissect the functional content of a genomic region, and several developmental defects have been associated with mice homozygous for distinct piebald deletion alleles. We have used molecular markers to order the breakpoints for 20 deletion alleles that span a 15.7–18-cM region of distal mouse chromosome 14. Large deletions covering as much as 11 cM have been identified that will be useful for regionally directed mutagenesis screens to reveal recessive mutations that disrupt development. Deletions identified as having breakpoints positioned within previously described critical regions have been used in complementation studies to further define the functional intervals associated with the developmental defects. This has focused our efforts to isolate genes required for newborn respiration and survival, skeletal patterning and morphogenesis, and central nervous system development.
