A neomycin selection cassette replaced exon 6, which is common to all isoforms, and exons 7a and 7b, which are specific to muscle and brain isoforms, respectively. Protein was undetected by immunofluorescence analysis of homozygous mutant myotubes. (J:37052)
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