MGI:1929651The incompletely penetrant homozygous phenotype of a splice-site mutation may include retinal epithelium expansion over the dorsal half of the eye, exencephaly, spina bifida, gastrulation defects and/or aberrant somite and mesoderm development. A few mutants survive postnatally and appear normal.
Supt20,也称为Suppressor of Ty20,是一种重要的蛋白质,参与调控轴性骨骼发育。Supt20在体节发生和随后的轴性骨骼发育中发挥作用,其功能是通过与Gcn5-containing SAGA组蛋白乙酰化复合物的相互作用实现的。Gcn5-containing SAGA组蛋白乙酰化复合物是一种重要的表观遗传调控因子,参与调控基因表达和细胞分化。
1. Warrier, Sunita, Nuwayhid, Samer, Sabatino, Julia A, Sugrue, Kelsey F, Zohn, Irene E. 2016. Supt20 is required for development of the axial skeleton. In Developmental biology, 421, 245-257. doi:10.1016/j.ydbio.2016.11.009. https://pubmed.ncbi.nlm.nih.gov/27894818/