The cDNA encoding human KCNIP3 (DREAM) with two aminoacid substitutions at EFhands 2, 3 and 4 (EFmDREAM) was inserted downstream of the bovine Thyroglobulin promoter to direct expression in the thyroid gland. The amino acid substitutions rendered the mutant insensitive to Ca2+. (J:148712)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count