A catalytically inactive allele of the gene was introduced via transgene insertion. The transgene includes exons 1-12, 240 bp of endogenous promoter sequence, a lysine to arginine substitution at codon 273 (K273R), and a fusion to the 3' untranslated region of the human growth hormone gene. To maximize transgene expression, 125 bp of exon 1, which encodes 5' untranslated sequences known to reduce translational efficiency, were removed. The endogenous promoter was used to direct transgene expression in the thymus. (J:76887)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count