Conditional knock-in mouse mimicking Oculopharyngeal muscular dystrophy.
Oculopharyngeal muscular dystrophy (OPMD) is rare genetic disease caused by a mutation in the PABPN1 gene. In this mutation, the number of GCG trinucleotide repeats at the 5' end of PABPN1 are increased, which leads to an expansion of an alanine repeat region. Emory University researchers have created a conditional genetic mouse model of PABPN1 using a combination of cre-lox and FLP recombinase technology. Seven additional copies of GCG are inserted to the 5' end of exon1 the Pabpn1 gene in these mice. The mouse model is built upon c57 BL6 mice. These animals display mild myopathies (muscle weakness) as well as biochemical changes, such as shortening of poly-A tails, which correlates to the known function of the PABPN1 protein.
Publication: Vest, K.E. et al. (2017). Human Molecular Genetics, 26(17), 3235-3252.