The gene was targeted via TALEN technology using the primer pairs 5'-TGGGAGTCAAGCCAAGTC-3' and 5'-GCCAGGATATTGTTGGCAGA-3'. This mutation comprises the deletion of two nucleotides (CT) at positions 263 and 264 of the 4379-nucleotide GenBank cDNA sequence BC028869.1, resulting in a reading-frame shift. (J:229089)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count