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Symbol Name ID |
Slc25a46
solute carrier family 25, member 46 MGI:1914703 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypoplasia of the pons |
Cerebellar hypoplasia |
Cerebellar atrophy |
Myoclonus |
EEG with burst suppression |
Areflexia |
Severe global developmental delay |
Sensorimotor neuropathy |
| Disease(s) Associated with SLC25A46 | ||||||||
| pontocerebellar hypoplasia type 1E |
| Mouse Phenotypes | tonic-clonic seizures |
abnormal Purkinje cell mitochondrial morphology |
microgliosis |
abnormal Purkinje cell dendrite morphology |
thin cerebellar molecular layer |
cerebellum hypoplasia |
astrocytosis |
abnormal node of Ranvier morphology |
abnormal retina ganglion cell dendrite morphology |
decreased amacrine cell number |
abnormal retina ganglion cell morphology |
abnormal synapse morphology |
abnormal neuromuscular synapse morphology |
optic nerve atrophy |
decreased spinal cord size |
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| Availability | Mouse Genotype | |||||||||||||||
| Slc25a46atc/Slc25a46atc | ||||||||||||||||
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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