This transgene consists of a 135 kb BAC clone, PAC-27 M07, containing the complete 111 kb human SNCA genomic DNA locus with the Parkinson Disease-associated A30P mutation, flanked by 18 kb of 5' and 6 kb of 3' genomic DNA sequence which includes the promoter. Western blot analysis confirmed expression of the human protein in the brain. Line 192 contains a single copy insertion in chromosome 15. (J:201961)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count