A neomycin gene was inserted in exon 3 which created a premature stop codon in the open reading frame. Absence of gene transcript was indicated by Northern blot analysis and western blot analysis confirmed the absence of protein product. (J:54567)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count