|
Symbol Name ID |
Als2
alsin Rho guanine nucleotide exchange factor MGI:1921268 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Spasticity of facial muscles |
Drooling |
Retrocollis |
Dysphagia |
Spasticity |
Lower limb spasticity |
Spastic diplegia |
Spastic tetraparesis |
Upper limb spasticity |
Opisthotonus |
Spastic dysarthria |
Spastic gait |
Spasticity of pharyngeal muscles |
Difficulty walking |
Fatigable weakness of bulbar muscles |
Fatigable weakness of swallowing muscles |
Fatigable weakness of respiratory muscles |
Abnormal lower motor neuron morphology |
Abnormal upper motor neuron morphology |
Motor neuron atrophy |
Amyotrophic lateral sclerosis |
Neurodegeneration |
Ataxia |
Clonus |
Fasciculations |
Head titubation |
Paralysis |
Babinski sign |
Delayed somatosensory central conduction time |
Abnormality of speech or vocalization |
Anarthria |
Dysarthria |
Language impairment |
Depression |
Emotional lability |
Anxiety |
Atypical behavior |
Pseudobulbar affect |
Agitation |
Cognitive impairment |
Frontotemporal dementia |
Sleep abnormality |
Hyperreflexia |
Jaw hyperreflexia |
Dystonia |
Generalized dystonia |
Arm dystonia |
Tip-toe gait |
Global developmental delay |
Abnormal exteroceptive sensation |
| Disease(s) Associated with ALS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
| amyotrophic lateral sclerosis | |||||||||||||||||||||||||||||||||||||||||||||||||||
| amyotrophic lateral sclerosis type 2 |
| Mouse Phenotypes | nervous system phenotype |
CNS inflammation |
abnormal Purkinje cell morphology |
decreased Purkinje cell number |
astrocytosis |
abnormal motor neuron innervation pattern |
abnormal corticospinal tract morphology |
abnormal neuron morphology |
abnormal motor neuron morphology |
decreased motor neuron number |
abnormal axon morphology |
abnormal neuromuscular synapse morphology |
abnormal ventral spinal root morphology |
neurodegeneration |
axon degeneration |
abnormal action potential |
abnormal axonal transport |
|
| Availability | Mouse Genotype | |||||||||||||||||
| Als2tm1Cai/Als2tm1Cai | * | |||||||||||||||||
| Als2tm1Deng/Als2tm1Deng | ||||||||||||||||||
| Als2tm1Garo/Als2tm1Garo | ||||||||||||||||||
| Als2tm1Hay/Als2tm1Hay | ||||||||||||||||||
| Als2tm1Jei/Als2tm1Jei | ||||||||||||||||||
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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