The 5' exon was interrupted by the insertion of a neomycin expression cassette. This introduces a premature stop codon into the ORF. RT-PCR and Northern blot analysis confirmed the absence of transcription. Western blot analysis demonstrated the absence of a protein product. (J:94943)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count