This allele carries a retroviral insertion in intron 1 which disrupts an intron enhancer element and resulted in a very low level of transcription of an alternatively spliced isoform lacking the carboxyl-terminal protease active site. RT-PCR revealed a significant reduction of all transcripts in mutants. (J:88845)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count