CRISPR/cas9 genome editing is used to generate a 286 nucleotide deletion that includes all of exon 3 (CCAGAGCACCCA //del286//AACGGGAAGGGA). Loss of exon 3 is predicted to generate a null allele. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count