A neomycin resistance cassette was inserted into exon 15 at a site corresponding to codon 1638. This mutation is predicted to result in a truncated protein. RT-PCR analysis detected a mutated transcript produced from this allele, but a truncated protein was not consistently detected by Western blot analysis. (J:20443)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count