The region encoding the laminin-like globular domain3 (LG3), part of the antiangiogenic fragment called endorepellin, was deleted by replacing exons 91-96 by the neo cassette, leading to a perlecan protein lacking 156 amino acids at the C-terminus. The deletion does not change the reading frame and the last exon of the gene is intact. (J:82809)
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