Two in-frame stop codon 32 and 30 codons were inserted upstream of the canonical start site and a floxed selection cassette were inserted. The selection cassette was then removed. This insertion blocks the expression of the long isoform. (J:258142)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count