TALEN-based genome editing (targeting sequences proximal exon 50 5'- TCCTACAGCTCTTCCACG -3' and 5'- TCACCCAGGGAGCCTCCG-3') is used to introduce a 10 bp frameshift deletion in exon 50. This mutation is predicted to produce a non-functional protein. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count