|
Symbol Name ID |
Als2
alsin Rho guanine nucleotide exchange factor MGI:1921268 |
| Darker colors indicate more annotations |
| Human Phenotypes | Spasticity of facial muscles |
Retrocollis |
Hand muscle atrophy |
Foot dorsiflexor weakness |
Lower limb muscle weakness |
Upper limb muscle weakness |
Limb joint contracture |
Hypertonia |
Spasticity |
Lower limb spasticity |
Spastic diplegia |
Spastic tetraparesis |
Upper limb spasticity |
Opisthotonus |
Spastic dysarthria |
Spastic gait |
Spasticity of pharyngeal muscles |
EMG: chronic denervation signs |
Difficulty walking |
Muscle spasm |
Muscle weakness |
Distal muscle weakness |
Fatigable weakness of bulbar muscles |
Fatigable weakness of swallowing muscles |
Fatigable weakness of respiratory muscles |
Generalized muscle weakness |
Proximal muscle weakness |
Skeletal muscle atrophy |
Distal amyotrophy |
Distal lower limb amyotrophy |
Progressive distal muscular atrophy |
Progressive spinal muscular atrophy |
| Disease(s) Associated with ALS2 | ||||||||||||||||||||||||||||||||
| amyotrophic lateral sclerosis | ||||||||||||||||||||||||||||||||
| amyotrophic lateral sclerosis type 2 |
| Mouse Phenotypes | abnormal skeletal muscle fiber morphology |
skeletal muscle fiber atrophy |
centrally nucleated skeletal muscle fibers |
abnormal skeletal muscle fiber type ratio |
|
| Availability | Mouse Genotype | ||||
| 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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