The promoter drives cardiac expression of a modified cDNA in which nucleotide substitution resulted in the amino acid substitution of alanine for isoleucine at position 1127 (I1127A). The pound symbol (#) is used when no line is psecified and/or lines are pooled. (J:187358)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count