The promoter was used to drive expression in postmitotic neurons of the HA-tagged human cDNA that contains nucleotide substitutions that result in the amino acid substitution of valine for glycine at position 12 (G12V). This mutation produces a constitutively active product. (J:102160)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count