The murine gene with a single point mutation of G to A in exon 12 that is confined to Asians and results in a substitution of glutamine 487 to lysine (E487K) is under the control of the human elongation factor-1 alpha. This mutation results in a dominant-negative effect. Three lines were established: DAL101, DAL102, and DAL103. DAL101 is the high expressing line. (J:137374)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count