2.5 kb of sequence, including exons 1 and 2, was deleted and replaced by a neomycin selection cassette. The absence of transcript and protein was confirmed via Northern blot analysis of skeletal muscle RNA and Western blot analysis of mitochondria, respectively. (J:78047)
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