A construct consisting of a wmN1 enhancer, a heat shock protein (Hsp) promoter, the human PLP1 cDNA modified c.409C-T (resulting in p.Arg137Trp) and a polyadenylation (PolyA) signal, plus an Hprt1 promoter and exon 1 was inserted at the 5' end of Hprt1 in reverse orientation in ES cells that carried a deletion of the Hprt1 promoter and exon 1. The recombined locus contains a restored Hprt1 gene and the expression construct in tandem reverse orientation to the Hprt1 gene. (J:238644)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count