CRISPR/cas9 mediated recombination created a 941 nt deletion removing all of exon 2. Expression of the larger Np65 isoform is lost but the expression of the Np55 isoform is retained. (J:326721)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count