The last exon was targeted with an sgRNA (targeting CCATGCCCTGAGAGCAGTGAGCC) using CRISPR/Cas9 technology, resulting in a 1 bp insertion (A/T) 5 bp before the end of the stop codon. (J:307453)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count