|
Symbol Name ID |
Aifm1
apoptosis-inducing factor, mitochondrion-associated 1 MGI:1349419 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Tongue fasciculations |
Increased CSF lactate |
Motor axonal neuropathy |
Sensory axonal neuropathy |
Abnormal basal ganglia morphology |
Abnormal corpus striatum morphology |
Ataxia |
Involuntary movements |
Tremor |
Tetraplegia |
Decreased nerve conduction velocity |
Delayed speech and language development |
Irritability |
Cognitive impairment |
Intellectual disability |
Sleep abnormality |
Areflexia |
Hyporeflexia |
Hypokinesia |
Gait disturbance |
Unsteady gait |
Developmental regression |
Global developmental delay |
Moderate global developmental delay |
Peripheral neuropathy |
Motor polyneuropathy |
Polyneuropathy |
Sensorimotor neuropathy |
Sensory neuropathy |
Seizure |
Generalized-onset seizure |
Impaired pain sensation |
Distal sensory impairment |
| Disease(s) Associated with AIFM1 | |||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease X-linked recessive 4 | |||||||||||||||||||||||||||||||||
| combined oxidative phosphorylation deficiency 6 | |||||||||||||||||||||||||||||||||
| X-linked deafness 5 |
| Mouse Phenotypes | nervous system phenotype |
abnormal seizure response to pharmacological agent |
decreased neuron apoptosis |
decreased susceptibility to neuronal excitotoxicity |
increased neuron apoptosis |
decreased brain size |
thin cerebral cortex |
abnormal cerebellar cortex morphology |
Purkinje cell degeneration |
abnormal cerebellar granule layer morphology |
abnormal cerebellar granule cell morphology |
small cerebellum |
amacrine cell degeneration |
retina ganglion cell degeneration |
absent optic nerve |
|
| Availability | Mouse Genotype | |||||||||||||||
| Aifm1Hq/Aifm1Hq | ||||||||||||||||
| Aifm1tm2.1Pngr/Aifm1tm2.1Pngr | ||||||||||||||||
| Aifm1Hq/Aifm1+ | * | |||||||||||||||
| Aifm1Hq/Y | ||||||||||||||||
| Aifm1tm2.1Pngr/Y | ||||||||||||||||
| Aifm1tm2Pngr/Y Foxg1tm1(cre)Skm/Foxg1+ (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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