A neomycin selection cassette was inserted in the KPN site at nt840 in exon10 to disrupt gene expression. (personal communication) Absence of protein expression was demonstrated by SDS-PAGE. (J:111187)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count