The human promoter was used to drive ubiquitous expression of the mouse gene with a point mutation that results in the amino acid substitution of threonine for alanine at position 360. Three lines were produced (G, H, and I) with line H selected as the representative line. (J:104378)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count