A 2bp deletion (GT) was created close to the translation start site in exon 2 using TALENs. The resulting frameshift causes premature termination. Western blot and RT-PCR experiments confirmed the absence of expression from this allele. (J:293292)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count