Pabpn1^tm1.2Gpvl
Targeted Allele Detail

Summary

• Symbol: Pabpn1^tm1.2Gpvl
• Name: poly(A) binding protein, nuclear 1; targeted mutation 1.2, Grace Pavlath
• MGI ID: MGI:6110860
• Synonyms: Pabpn1^A17
• Gene: Pabpn1 Location: Chr14:55131600-55136384 bp, + strand Genetic Position: Chr14, 27.98 cM
• Alliance: Pabpn1^tm1.2Gpvl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243638
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: 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- and Cre-mediated recombination removed the neo cassette and the wildtype cDNA and eGFP insertions. Immunoblots using antibodies specific to the alanine expansion confirmed expression of this allele. This alanine expansion allele mimics a mutation found in oculopharyngeal muscular dystrophy (OPMD) patients. (J:243638)
• Inheritance: Dominant

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pabpn1 Mutation: 12 strains or lines available

Notes

Generated by Ozgene

References

• Original: J:243638 Vest KE, et al., Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology. Hum Mol Genet. 2017 Sep 01;26(17):3235-3252
• All: 2 reference(s)