A one base pair deletion was introduced by CRIPSR mutagenesis; deletion of the last T residue in codon 155 resulted in a missense and shift in the reading frame resulting in a premature stop codon. (J:270029)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count