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Symbol SOX6 contributors: shn/npt/pgu - updated : 01-09-2020
HGNC name SRY (sex determining region Y)-box 6
HGNC id 16421
  • Mice homozygous for mutant allele p(100H), which interrupt the p gene and the Sox6 gene, show delayed growth, develop progressive atrioventricular heart block, significant ultrastructural changes in both cardiac, skeletal muscle cells and die within 2 wk after birth
  • Sox6 single null mice are born with mild skeletal abnormalities
  • Sox5-Sox6 double null fetuses die with a severe, generalized chondrodysplasia
  • Sox6-deficient mice are anemic due to impaired red cell maturation and show inappropriate globin gene expression in definitive erythrocytes