The collagen X promoter was ligated upstream of the cDNA sequence encoding the myc-tagged cog mutant form (a C to T transition yielding a leucine to proline change at residue 2263) of thyroglobulin (Tg). This line has 5 copies of the transgene at a single insertion site and expressed 17% and 33% the level of endogenous collagen X in the hemizygous and homozygous state, respectively. Expression of Tg protein in hypertrophic chondrocytes did not affect the normal secretion of collagen X. (J:154052)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count