Slc39a12^em77Tja

This allele was made by ZFN mutagenesis. The resulting mutation 77 has a stop codon, 15 amino acids from the ZFN-binding site, that resulted in a 490 amino acids (54 kDa) truncated protein, 198 amino acids smaller than the WT protein<br>ASSOCIATED WITH decreased pulmonary artery pressure; ASSOCIATED WITH Pulmonary Hypertension, Hypoxia-Induced ; Right Ventricular Hypertrophy该等位基因由ZFN诱变技术构建而成。所得到的突变体77号具有一个终止密码子，距离ZFN结合位点15个氨基酸，导致形成了一个由490个氨基酸（54 kDa）组成的截短蛋白，比野生型蛋白少198个氨基酸。此突变体与肺动脉压降低相关；与肺高血压、缺氧诱导的肺高压以及右心室肥厚相关。