Beamer W J, Eicher E M, Maltais L J, Southard J L
Science. 1981 Apr 3;212(4490):61-3. doi: 10.1126/science.7209519.
A new autosomal recessive mutation that causes hypothyroidism has been identified in mice. The gene, herein named hypothyroid (hyt), has been mapped on chromosome 12 approximately 30 units from the centromere. The mutants are characterized by retarded growth, infertility, mild anemia, elevated serum cholesterol, very low to undetectable serum thyroxine, and elevated serum thyroid-stimulating hormone. Thyroid glands are in the normal location but are reduced in size and hypoplastic. Mutant mice respond to thyroid hormone therapy by improved growth and fertility. These findings suggest that the hyt mutant gene results in primary hypothyroidism unresponsive to thyroid-stimulating hormone.
在小鼠中发现了一种导致甲状腺功能减退的新的常染色体隐性突变。该基因在此命名为甲状腺功能减退（hyt），已被定位在12号染色体上，距离着丝粒约30个单位。这些突变体的特征是生长迟缓、不育、轻度贫血、血清胆固醇升高、血清甲状腺素极低甚至检测不到，以及血清促甲状腺激素升高。甲状腺位于正常位置，但体积减小且发育不全。突变小鼠对甲状腺激素治疗的反应是生长和生育能力得到改善。这些发现表明，hyt突变基因导致对促甲状腺激素无反应的原发性甲状腺功能减退。
