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Symbol Name ID |
Afg3l2
AFG3-like AAA ATPase 2 MGI:1916847 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dysphagia |
Oculomotor apraxia |
Photophobia |
Spasticity |
Spastic paraparesis |
Onion bulb formation |
Cerebellar atrophy |
Ataxia |
Dysdiadochokinesis |
Dysmetria |
Gait ataxia |
Limb ataxia |
Spastic ataxia |
Parkinsonism |
Myoclonus |
Babinski sign |
Dysarthria |
Cognitive impairment |
Lower limb hyperreflexia |
Dystonia |
Sensorimotor neuropathy |
Bilateral tonic-clonic seizure |
Generalized myoclonic seizure |
Somatic sensory dysfunction |
| Disease(s) Associated with AFG3L2 | ||||||||||||||||||||||||
| optic atrophy 12 | ||||||||||||||||||||||||
| spastic ataxia 5 | ||||||||||||||||||||||||
| spinocerebellar ataxia type 28 |
| Mouse Phenotypes | abnormal neuron mitochondrial morphology |
abnormal Purkinje cell mitochondrial morphology |
microgliosis |
abnormal Bergmann glial cell morphology |
Purkinje cell degeneration |
abnormal Purkinje cell dendrite morphology |
abnormal cerebellar granule layer morphology |
abnormal cerebellar granule cell morphology |
thin cerebellar granule layer |
thin cerebellar molecular layer |
astrocytosis |
abnormal oligodendrocyte morphology |
gliosis |
abnormal neuron morphology |
abnormal motor neuron morphology |
decreased motor neuron number |
abnormal axon morphology |
abnormal myelin sheath morphology |
decreased myelin sheath thickness |
increased myelin sheath thickness |
decreased neuron number |
abnormal neuromuscular synapse morphology |
abnormal spinal cord lateral motor column morphology |
abnormal spinal cord white matter morphology |
decreased spinal cord size |
neurodegeneration |
axon degeneration |
abnormal myelination |
dysmyelination |
abnormal miniature endplate potential |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||
| Afg3l2Emv66/Afg3l2Emv66 | |||||||||||||||||||||||||||||||
| Afg3l2par/Afg3l2par | |||||||||||||||||||||||||||||||
| Afg3l2Emv66/Afg3l2+ | |||||||||||||||||||||||||||||||
| Afg3l2tm1Arte/Afg3l2tm1Arte Tg(Pcp2-cre)2Mpin/0 (conditional) |
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| Afg3l2tm1Arte/Afg3l2tm1Arte Tg(Plp1-cre/ERT)3Pop/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 04/16/2024 MGI 6.23 |
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