CRISPR targeting removed the sequence encoding the upstream polyadenylation (poly-A) signal (PAS). The allele produces only isoform 1 and not isoform 2. (J:292009)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count