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Symbol
Name
ID
Pabpn1
poly(A) binding protein, nuclear 1
MGI:1859158
Phenotype annotations related to muscle
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Facial palsy
Limb muscle weakness
Distal muscle weakness
Neck muscle weakness
Proximal muscle weakness
Ragged-red muscle fibers
Disease(s) Associated with PABPN1
oculopharyngeal muscular dystrophy

Mouse Phenotypes
muscle phenotype
decreased skeletal muscle fiber diameter
increased skeletal muscle fiber diameter
skeletal muscle atrophy
skeletal muscle hypertrophy
Availability Mouse Genotype
Pabpn1tm2.2Gpvl/Pabpn1+ *

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)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory