Prlhr^em1Smln

CRISRP/Cas9 technology generated CCG to TCG change resulting in a proline to serine substitution at amino acid 193 (p.P193S). A second silent C to T mutation was also introduced to cause a loss of an Eagl restriction site for screening. The p.P193S is a rare loss of function variant identified in an individual with severe obesity. (J:339803)