CRISPR/cas9 genome editing is used to create a 5 bp deletion (GCCTC; nucleotides 402-406) in exon 3. Immunoblot analysis of bone marrow macrophages demonstrates that no protein is produced. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count