CRISPR/Cas9 genome editing is used to modify amino acids TTV (nucleotides ACTGTGGTA) to MGK (nucleotides ATGGGCAAG) in exon 2. As part of the repair of the CRISPR cleavage, there is a 40 bp insert immediately 3' of the stop codon, which is useful for PCR genotyping. (J:275974)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count