Pabpn1 floxed mice possess loxP sites flanking exons 1-2 of the poly(A) binding protein, nuclear 1 (PABPN1) gene. PABPN1 is a ubiquitously expressed RNA binding protein that is most well characterized as a regulator of polyadenosine (poly[A]) tail length and alternative polyadenylation (APA), as well as a regulator of expression of antisense RNAs associated with gene promoters. A stretch of ten alanines just after the initial methionine and a dominant GCG expansion to 11-18 alanines in PABPN1 is associated with the onset of Oculopharyngeal muscular dystrophy (OPMD). This is a late onset disease that causes ptosis, dysphagia, and loss of mobility due to progressive weakness of eyelid, pharyngeal, and proximal limb muscles. Patients are affected by loss of nutrition and aspiration pneumonia. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 1-2, including the start codon and the 10-alanine residues, removed in cre-expressing tissues. Mice that are homozygous for this allele are viable and fertile. 

When bred to B6.FVB-Tg(EIIa-cre)C5379Lmgd/J (Stock No. <a href="https://www.jax.org/strain/003724">003724</a>) mice, with early embryonic Cre Recombinase expression, resulting Pabpn1 deficient mice exhibit mild myopathic phenotype in adult and aged animals. They have shorter poly(A) tails and evidence of mitochondrial damage as noted by loss of mtDNA copy number. They also have smaller hind limb muscles.

Pabpn1 floxed mice possess a loxP sited flanking exons 1-2, including the start codon, of the poly(A) binding protein, nuclear 1 (Pabpn1) gene. These mice may be useful when studying Oculopharyngeal muscular dystrophy (OPMD).

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