Anks6^PKD

This allele is a spontaneously missense mutant found in a polycystic kidney diseased male Sprague Dawley rat. The mutation was a C to T transition that replaces an arginine by a tryptophan at amino acid 823 in the protein sequence.<br>ASSOCIATED WITH decreased hematocrit; enlarged kidney; increased blood urea nitrogen level; ASSOCIATED WITH polycystic kidney disease; proteinuria; uremia本等位基因系在患有多囊肾病的雄性Sprague Dawley大鼠中发现的自然突变错义突变。该突变为一处C到T的转换，导致蛋白质序列中的第823个氨基酸由精氨酸替换为色氨酸。与降低的血细胞比容、增大的肾脏、增高的血尿素氮水平相关；与多囊肾病、蛋白尿、尿毒症相关。