The transgenic construct comprised the following elements: a CAG promoter, a loxP site flanked STOP cassette, a splicable intron, a mutant human PPARG coding region (from a cDNA) that codes for a substitution resulting in a Pro467Leu change, an IRES in front of the tdTomato reporter gene, a WPRE transcription enhancer and a polyA signal. The construct was injected into the pronuclei of fertilized C57BL/6 x SJL eggs. Only after cre-mediated recombination (which will remove the STOP cassette), will the human and reporter genes be expressed. The mutation in the human gene results in a dominant negative allele. (J:242422)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count