The mouse promoter drives cardiac-specific expression of the human cDNA with a C to A transition that results in the amino acid substitution of asparagine for threonine at position 400 (T400N). (J:123005)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count