A stop codon was introduced into exon 2, as well as a neomycin resistance cassette. RT-PCR confirmed the lack of wild-type transcript in mutants. It was demonstrated that exon 1 spliced to exon 3, resulting in a frame shift that would putatively result in a nonsense protein containing only the signal peptide. The allele is concluded to be a null. (J:112002)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count