A lacZ gene was inserted and fused in-frame into exon 2, and was followed by a neomycin selection cassette. Western blot analysis indicated that the expression of wild-type transcript was eliminated from this allele. However, a beta-galactosidase fusion protein was expressed under the control of the endogenous promoter. (J:50964)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count