CRISPR/Cas9-mediated mutagenesis created a 1 bp insertion in exon 4 that results in a frameshift of the open reading frame. Immunohistochemistry confirmed absence of protein in the retina. (J:243288)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count