|
Symbol Name ID |
Atxn1
ataxin 1 MGI:104783 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dysphagia |
Spasticity |
Bulbar palsy |
Dilated fourth ventricle |
Spinocerebellar atrophy |
Olivopontocerebellar atrophy |
Dorsal column degeneration |
Spinocerebellar tract degeneration |
Dysdiadochokinesis |
Dysmetria |
Limb ataxia |
Progressive cerebellar ataxia |
Truncal ataxia |
Abnormality of extrapyramidal motor function |
Chorea |
Fasciculations |
Babinski sign |
Decreased motor nerve conduction velocity |
Decreased sensory nerve conduction velocity |
Decreased amplitude of sensory action potentials |
Dysarthria |
Scanning speech |
Cognitive impairment |
Hyperreflexia |
Areflexia |
Peripheral neuropathy |
Impaired pain sensation |
Impaired distal tactile sensation |
Paresthesia |
Impaired proprioception |
Impaired vibratory sensation |
| Disease(s) Associated with ATXN1 | |||||||||||||||||||||||||||||||
| spinocerebellar ataxia type 1 |
| Mouse Phenotypes | decreased brain weight |
dilated brain ventricle |
abnormal Purkinje cell dendrite morphology |
decreased Purkinje cell number |
neuronal intranuclear inclusions |
abnormal excitatory postsynaptic potential |
reduced long-term potentiation |
decreased paired-pulse facilitation |
|
| Availability | Mouse Genotype | ||||||||
| Atxn1tm2Hzo/Atxn1tm2Hzo | |||||||||
| Atxn1tm1Hzo/Atxn1+ | |||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 05/07/2024 MGI 6.23 |
|
|
|
||
Analysis Tools