CRISPR/Cas9 technology generated a single nucleotide deletion in the ABC domain and introduced a stop codon following addition of one nonnative amino acid residue (LPKTRSGKIMRR... to LPKTRSGKIS*). Immunohistochemistry shows that protein is present at minimal or undetectable levels in the kidney and liver, respectively and mRNA levels are reduced in kidney and liver. (J:312521)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count