Pabpn1^tm1.1Gpvl

The gene was targeted with a construct containing the following elements: a loxP site, the wildtype cDNA, an internal ribosomal entry site (IRES), an enhanced green fluorescent protein (eGFP) reporter gene, an FRT site flanked neomycin resistance gene, a second loxP site, and the portion of the human cDNA representing a (GCG)7 alanine codon expansion. This was targeted to immediately downstream of the ATG start codon in exon 1 and adds 7 alanines to the endogenous 10. Subsequent Flp-mediated recombination removed the neo cassette. This alanine expansion allele mimics a mutation found in oculopharyngeal muscular dystrophy (OPMD) patients. (J:243638)