CRISPR/cas9 genome editing is used to create a 390-nt deletion that resulted in the complete loss of exon 5 (as well as 119bp upstream and 162bp downstream). This is designed to create a knock-out allele resulting in a premature stop codon at amino acid 135. Prkdc transcript Prkdc-201 was used as reference for the exon number and the guide sequences. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count