|
Symbol Name ID |
Arx
aristaless related homeobox MGI:1097716 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Drooling |
Absent Achilles reflex |
Hyporeflexia of lower limbs |
Hyporeflexia of upper limbs |
Aganglionic megacolon |
Dysphagia |
Extrapyramidal muscular rigidity |
Spasticity |
Lower limb spasticity |
Spastic tetraparesis |
Spastic tetraplegia |
Frequent falls |
Gliosis |
Delayed CNS myelination |
Ventriculomegaly |
Lissencephaly |
Pachygyria |
Cerebral cortical atrophy |
Thin corpus callosum |
Agenesis of corpus callosum |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Cerebellar atrophy |
Global brain atrophy |
Dysmetria |
Slurred speech |
Bradykinesia |
Parkinsonism |
Apraxia |
Choreoathetosis |
Erratic myoclonus |
Action tremor |
Abnormal pyramidal sign |
Babinski sign |
Tetraplegia |
Agraphesthesia |
EEG abnormality |
EEG with burst suppression |
Hypsarrhythmia |
Echolalia |
Reduced eye contact |
Delayed speech and language development |
Dysarthria |
Astereognosis |
Atypical behavior |
Intellectual disability |
Intellectual disability, mild |
Intellectual disability, moderate |
Intellectual disability, progressive |
Intellectual disability, severe |
Hyperreflexia |
Hyporeflexia |
Dyskinesia |
Dystonia |
Focal dystonia |
Limb dystonia |
Gait disturbance |
Falls |
Impaired tandem gait |
Inability to walk |
Unsteady gait |
Epileptic encephalopathy |
Global developmental delay |
Profound global developmental delay |
Severe global developmental delay |
Motor delay |
Specific learning disability |
Seizure |
Bilateral tonic-clonic seizure |
Focal-onset seizure |
Focal motor seizure |
Generalized myoclonic seizure |
Atonic seizure |
Infantile spasms |
Tonic seizure |
| Disease(s) Associated with ARX | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| corpus callosum agenesis-abnormal genitalia syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| developmental and epileptic encephalopathy 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| non-syndromic X-linked intellectual disability ARX-related | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Partington syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disability Hedera type | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| X-linked lissencephaly 2 |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
seizures |
convulsive seizures |
clonic seizures |
myoclonus |
tonic seizures |
tonic-clonic seizures |
abnormal spike wave discharge |
sporadic seizures |
abnormal neuronal migration |
abnormal forebrain development |
abnormal hippocampus development |
abnormal telencephalon development |
abnormal cortical marginal zone morphology |
abnormal cortical plate morphology |
thin cortical plate |
abnormal cortical ventricular zone morphology |
abnormal brain interneuron morphology |
decreased brain size |
enlarged third ventricle |
abnormal corpus callosum morphology |
absent hippocampal commissure |
abnormal brain internal capsule morphology |
abnormal striatum morphology |
abnormal ventral striatum morphology |
abnormal thalamus morphology |
abnormal central medial nucleus morphology |
abnormal hippocampus CA3 region morphology |
abnormal dentate gyrus morphology |
abnormal hippocampus CA4 region morphology |
absent hippocampal fimbria |
abnormal telencephalon morphology |
abnormal cerebral cortex morphology |
abnormal neocortex morphology |
abnormal somatosensory cortex morphology |
abnormal olfactory bulb morphology |
small olfactory bulb |
abnormal postnatal subventricular zone morphology |
abnormal nervous system tract morphology |
loss of GABAergic neurons |
abnormal cholinergic neuron morphology |
abnormal glutaminergic neuron morphology |
decreased neuron number |
abnormal nervous system electrophysiology |
abnormal brain wave pattern |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm1.1Jno/Arxtm1.1Jno | |||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm1.1Ics/Y | |||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm1.1Jno/Y | |||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm1Kki/Y | |||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm2Kki/Y | |||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm3Kki/Y | |||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm4Kki/Y | |||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm5Kki/Y | * | ||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm1Gldn/Arx+ Tg(mI56i-cre,EGFP)1Kc/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||||||||
| Arxtm1Gldn/Y Tg(Pou3f4-cre)32Cren/0 (conditional) |
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| Arxtm1Gldn/Y Tg(mI56i-cre,EGFP)1Kc/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||||||||
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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