CRISPR/Cas9 technology was used to introduce a premature termination codon in exon 2, from position 79841638 to 79842251. Three lines that introduced premature termination codons predicted to result in nonsense-mediated mRNA decay and absence of protein were obtained. (J:325206)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count