Identification of genetic cause of a T- and B-cell deficiency in mice

Here we describe a novel, spontaneous, 4035 basepairs long deletion in the DNA cross-link repair 1C (Dclre1c)-locus in C57BL/6-mice, which leads to loss of exons 10 and 11 of the gene encoding for Artemis, a protein involved into V(D)J-recombination of antigen receptors of T and B cells.

本研究报道了C57BL/6小鼠DNA交联修复1C（Dclre1c）基因座上一处长度为4035个碱基对的新型自发性缺失突变，该突变会导致编码阿耳忒弥斯（Artemis）蛋白的基因丢失第10和11号外显子；而该蛋白参与T细胞与B细胞抗原受体的V(D)J重组过程。