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Symbol Name ID |
Pdha1
pyruvate dehydrogenase E1 alpha 1 MGI:97532 |
| Darker colors indicate more annotations |
| Human Phenotypes | Flexion contracture |
Spastic paraplegia |
Spastic tetraplegia |
Hypotonia |
Generalized hypotonia |
Neonatal hypotonia |
| Disease(s) Associated with PDHA1 | ||||||
| pyruvate decarboxylase deficiency |
| Mouse Phenotypes | increased myocardial fiber size |
heart left ventricle hypertrophy |
decreased cardiac muscle contractility |
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| Availability | Mouse Genotype | |||
| Pdha1tm1Ptl/Pdha1+ Tg(Ckmm-cre)5Khn/0 (conditional) |
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| Pdha1tm1Ptl/Y Tg(Ckmm-cre)5Khn/0 (conditional) |
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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 04/23/2024 MGI 6.23 |
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