The targeting construct contained the chicken beta actin promoter and a modified Kcnj8 gene containing a glycine to aspartate substitution at amino acid residue 343 (G343D). This is a gain-of-function mutation. (J:234096)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count