Symbol Name ID |
Pabpn1
poly(A) binding protein, nuclear 1 MGI:1859158 |
* | 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 |
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Availability | Mouse Genotype | |||||
Pabpn1tm2.2Gpvl/Pabpn1+ | * |
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 |
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