The entire coding sequence, contained within exon 2, was replaced with a PGK-neo cassette. The absence of transcript and protein production was confirmed by RT-PCR and western blot analysis, respectively, using atria and ventricle tissue. (J:127150)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count