A neomycin resistance cassette was inserted in exon 2. Absence of mRNA was confirmed by hybridization assay and by RT-PCR. Absence of protein was demonstrated immunologically and by Western blot analysis. (J:87615)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count