A floxed neo was inserted into intron 17 and a loxP sites into intron 18. Excision of this exon would still allow production of the shorter isoform containing exons 1-11. (J:95953, J:115836)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count