|
Symbol Name ID |
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10 MGI:2143558 |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial palsy |
Tongue fasciculations |
Dysphagia |
Difficulty walking |
Bulbar palsy |
Amyotrophic lateral sclerosis |
Cerebral cortical atrophy |
Ataxia |
Parkinsonism |
Fasciculations |
Tremor |
Babinski sign |
Abnormal sensory nerve conduction velocity |
Dysarthria |
Cognitive impairment |
Frontal lobe dementia |
Frontotemporal dementia |
Areflexia |
Hyporeflexia |
Gait disturbance |
Inability to walk |
Bulbar signs |
Distal sensory impairment |
Impaired distal vibration sensation |
| Disease(s) Associated with CHCHD10 | ||||||||||||||||||||||||
| frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | ||||||||||||||||||||||||
| isolated mitochondrial myopathy | ||||||||||||||||||||||||
| spinal muscular atrophy, Jokela type |
| Mouse Phenotypes | abnormal dopaminergic neuron morphology |
abnormal motor neuron morphology |
abnormal neuromuscular synapse morphology |
|
| Availability | Mouse Genotype | |||
| Chchd10em8Lutzy/Chchd10+ | ||||
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 05/21/2024 MGI 6.23 |
|
|
|
||
Analysis Tools