CRISPR-Cas9 mediated mutagenesis created a 4 base pair deletion in exon 3 (c64_68delATAG) predicted to lead to a frameshift and the creation of a premature stop codon (p.Iso22Lysfs*39) and to result in loss of function. (J:248902)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count