The transgene consists of a human rhodopsin promoter (containing the RER enhancer element), the full-length wild-type human Sca7 gene carrying 10 glutamine repeat units, and an SV40 intron and polyadenylation sequence. Transgene expression was observed in rod cells by immunofluorescence, and in retinal extracts by Western blot. (J:65411)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count