A neomycin expression cassette was inserted into the first coding exon at codon 49, resulting in a premature translational stop codon. Western blot confirmed the absence of protein in mutants. (J:100925)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count