Endocrine Abstracts

The syndrome of Resistance to Thyroid Hormone (RTH), found in about 300 patient families, is characterized by multiple somatic abnormalities, varying levels of mental retardation, and tachycardia. It is caused by mutations in thyroid hormone receptor beta 1 (TRb) which confer dominant negative effects. No patient with a germline mutant TRa gene has yet been found. We therefore introduced a patient’s mutation into the mouse TRa1 gene. The mutation allows T3 binding with a ...