CRISPR/cas9 mediated recombination created a 6bp deletion (5'-TGCATG-3') in the auto-regulatory Pax6 binding sequence upstream of exon 5. (J:240931)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count