CRISPR/Cas9 technology generated an 83 bp deletion in exon 21 leading to a premature stop codon in exon 22. Western blot analysis confirmed absence of protein in the kidney, brain, and bone marrow. (J:304162)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count