|
Symbol Name ID |
Uchl1
ubiquitin carboxy-terminal hydrolase L1 MGI:103149 |
| Darker colors indicate more annotations |
| Human Phenotypes | Ankle clonus |
Dysphagia |
Abnormality of visual evoked potentials |
Lower limb spasticity |
Spastic paraplegia |
Peripheral axonal neuropathy |
Cerebral atrophy |
Cerebellar atrophy |
Neurodegeneration |
Ataxia |
Dysmetria |
Gait ataxia |
Fasciculations |
Intention tremor |
Postural tremor |
Head titubation |
Babinski sign |
Hoffmann sign |
Tetraparesis |
Dysarthria |
Intellectual disability |
Hyperreflexia |
Lower limb hyperreflexia |
Loss of ambulation |
Myokymia |
Sensorimotor neuropathy |
Impaired proprioception |
Impaired vibratory sensation |
Impaired vibration sensation at ankles |
Sensory ataxia |
| Disease(s) Associated with UCHL1 | ||||||||||||||||||||||||||||||
| hereditary spastic paraplegia 79A | ||||||||||||||||||||||||||||||
| hereditary spastic paraplegia 79B |
| Mouse Phenotypes | abnormal medulla oblongata morphology |
motor neuron degeneration |
abnormal neuromuscular synapse morphology |
abnormal dorsal root ganglion morphology |
abnormal spinal cord dorsal column morphology |
neurodegeneration |
axon degeneration |
axonal dystrophy |
abnormal synaptic plasticity |
increased synaptic depression |
abnormal PNS synaptic transmission |
abnormal endplate potential |
abnormal miniature endplate potential |
decreased neurotransmitter release |
decreased paired-pulse facilitation |
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| Availability | Mouse Genotype | |||||||||||||||
| Uchl1gad-2J/Uchl1gad-2J | ||||||||||||||||
| Uchl1gad/Uchl1gad | ||||||||||||||||
| Uchl1tm1Dgen/Uchl1tm1Dgen | ||||||||||||||||
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 05/14/2024 MGI 6.23 |
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