A 4.5 kb genomic fragment, containing three DNase I hypersensitivity sites in the human familial aniridia breakpoint region, was placed upstream of the Hsp68 promoter driven beta-galactosidase (lacZ) reporter gene and SV40 poly(A) signal sequences. The fragment is located in the last intron of the elongator acetyltransferase complex subunit 4 gene. In this transgene the genomic fragment is inserted in forward (centromere-telomere) direction. (J:265823)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count