CRISPR/Cas9 genome editing is used to introduce a 7 nucleotide deletion in exon 5 resulting in a truncated protein and a premature stop codon. The mutation is predicted to be a null allele. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count