Pabpn1^tm2.2Gpvl
Targeted Allele Detail

Summary

• Symbol: Pabpn1^tm2.2Gpvl
• Name: poly(A) binding protein, nuclear 1; targeted mutation 2.2, Grace Pavlath
• MGI ID: MGI:6110864
• Gene: Pabpn1 Location: Chr14:55131600-55136384 bp, + strand Genetic Position: Chr14, 27.98 cM
• Alliance: Pabpn1^tm2.2Gpvl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243638
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Dominant negative, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted upstream of exon 1 and an FRT site flanked puromycin resistance gene cassette and a second loxP site into intron 2. The puro cassette was removed through subsequent Flp-mediated recombination. Exons 1 and 2 were deleted through Cre-mediated recombination, creating a null allele. qRT-PCR and immunoblot experiments confirm the lack of expression from this allele. (J:243638)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

ES cell line = HZ1.1

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: 1 reference(s)