About   Help   FAQ
Pabpn1tm2.2Gpvl
Targeted Allele Detail
Nomenclature
Symbol: Pabpn1tm2.2Gpvl
Name: poly(A) binding protein, nuclear 1; targeted mutation 2.2, Grace Pavlath
MGI ID: MGI:6110864
Gene: Pabpn1  Location: Chr14:54894143-54898927 bp, + strand  Genetic Position: Chr14, 27.98 cM
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 detailsA 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
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  42 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/19/2020
MGI 6.15
The Jackson Laboratory