CRISPR/CAS9 technology generated a 16 bp deletion (nucleotide 103 to 118) in exon 1, resulting in a frame shift and a premature stop codon in the second exon at nucleotide 239. Western blot analysis confirmed absence of protein. (J:282431)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count