Two exons that were common to all known variants were replaced by a neomycin resistance cassette, thereby disrupting the reading frame and rendering the gene inactive. Absence of transcript was confirmed in mutant adipose tissue, liver, muscle and heart. (J:121762)
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