A construct containing a loxP site, exon 2, a Rox-flanked neomycin resistance gene, lox2272 site, exon 2 in an inverted orientation containing four nucleotide substitutions c.523-5 AAT>GCT and c.535-7 TAC>GCC resulting in an asparagine to alanine substitution at amino acid 175 and a tyrosine to alanine substitution at amino acid 179 (p.Asn175Ala, p.Tyr179Ala), loxP site, and lox2272 replaced exon 2. These residues are essential for Z-DNA (Asn175) and Z-RNA (Tyr179) binding. The neomycin resistance gene was removed. (J:323768)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count