A neo cassette was inserted into exon 2 causing a null allele. A northern blot confirmed the ablation of expression and a western blot of heart and skeletal muscle contained no recognized protein (rabbit anti-APOBEC2 antiserum). (J:119326)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count