A promoterless beta-geo cassette (a fusion of beta-galactosidase and neomycin resistance genes) was introduced into intron 3. A fusion trasncript is expressed that contains the first three exons fused to the Beta-geo gene. No detectable wild-type transcript or protein is made from this allele. (J:220917)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count