CRISPR/cas9 genome editing is used to delete exons 2-4. This deletion is predicted to cause a shift in the reading frame from the splicing of coding sequences present within exons 1 and 5, resulting in the generation of a mutant peptide (62 amino acid in length) that does not align to that of known proteins. This effectively results in the inactivation of the gene. (J:307608)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count