A neomycin resistance cassette replaced exon 9 and 114 and 2 bp of intronic regions upstream and downstream of exon 9, respectively. Western blot analysis confirmed the absence of protein expression in lung, diaphragm, heart and quadriceps. (J:197753)
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