A 7 bp deletion was created at the beginning of the open reading frame (position 41-47) using an sgRNA with CRISPR/Cas9 technology causing a frameshift and a premature stop codon in exon 2. (J:280745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count