Exon 4, wich codes for the bulk of the protein, was replaced with a beta-galactosidase reporter and neomycin/puromycin resistance gene cassette. (J:171883, J:209569)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count