A loxP site was inserted upstream of exon 3. A floxed neo cassette was inserted downstream of exon 3. Cre-mediated recombination removed exon 3 and the neo cassette. Western blot analysis on skeletal muscle. heart, lung, liver, brain, and kidney extracts confirmed the absence of protein expression. (J:176499)
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