A PGK-neomycin resistance cassette was inserted in reverse orientation into exon 5 upstream of the conserved ASXH and PHD domains. The insertion interrupts the reading frame at codon 90 by the introduction of several premature termination codons. Northern blot analysis confirmed that insertion occurred as expected. (J:155898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count