The alpha-myosin heavy chain promoter drives cardiac-specific expression of the mouse phospolamban coding region containing a deletion of arginine 14 (AGA deletion mutation). This mutation is found in a family with dilated cardiomyopathy. The pound symbol is used when no line is specified and/or lines are pooled. (J:105976)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count