The human PDGFB promoter drives expression of a human UCHL1 cDNA with an isoleucine to methionine mutation at amino acid 93(I93M). Two lines were generated. Line L had lower levels of transgene expression compared to line H. Expression of the transgene is detected in the many brain regions including the substantia nigra, subthalamic nuclei, striatum, hippocampus CA3 and cerebellum. (J:128045)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count