|
Symbol Name ID |
Chat
choline acetyltransferase MGI:88392 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Dysphagia |
Generalized hypotonia due to defect at the neuromuscular junction |
Bulbar palsy |
Fatigable weakness |
Decreased miniature endplate potentials |
| Disease(s) Associated with CHAT | |||||
| congenital myasthenic syndrome 6 |
| Mouse Phenotypes | nervous system phenotype |
abnormal Schwann cell morphology |
abnormal innervation |
abnormal innervation pattern to muscle |
abnormal motor neuron innervation pattern |
increased motor neuron number |
abnormal axon morphology |
abnormal neuromuscular synapse morphology |
abnormal phrenic nerve morphology |
abnormal PNS synaptic transmission |
abnormal miniature endplate potential |
abnormal synaptic acetylcholine release |
|
| Availability | Mouse Genotype | ||||||||||||
| Chat/Slc18a3tm1.1Vpra/Chat/Slc18a3tm1.1Vpra | |||||||||||||
| Chat/Slc18a3tm1Vpra/Chat/Slc18a3tm1Vpra | |||||||||||||
| Chattm1.1Jrs/Chattm1.1Jrs | |||||||||||||
| Chattm1Fhg/Chattm1Fhg | |||||||||||||
| Chat/Slc18a3tm1.1Vpra/Chat+ | |||||||||||||
| Chat/Slc18a3tm1Vpra/Chat/Slc18a3tm1.1Vpra | |||||||||||||
| Chattm1Jrs/Chattm1Jrs Tg(CAG-cre/Esr1*)1Lbe/0 (conditional) |
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| Chattm1Mlt/Chattm1Mlt Tg(SLC18A3-cre)KMisa/0 (conditional) |
* | ||||||||||||
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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