The promoter was used to drive ubiquitous expression of a human cDNA containing a 3 bp deletion (delta GAG) identified in patients with DYT1 dystonia. Two lines were created (hMT1 and hMT2) with a 2-fold and 1.2-fold increase in expression levels, respectively. (J:98716)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count