|
Symbol Name ID |
Chat
choline acetyltransferase MGI:88392 |
| Darker colors indicate more annotations |
| Human Phenotypes | Arthrogryposis multiplex congenita |
Generalized hypotonia due to defect at the neuromuscular junction |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
Bulbar palsy |
Fatigable weakness |
Respiratory insufficiency due to muscle weakness |
Type 2 muscle fiber atrophy |
| Disease(s) Associated with CHAT | |||||||
| congenital myasthenic syndrome 6 |
| Mouse Phenotypes | abnormal gastrocnemius morphology |
abnormal soleus morphology |
abnormal muscle morphology |
skeletal muscle fiber atrophy |
abnormal skeletal muscle morphology |
diaphragmatic hernia |
thin diaphragm muscle |
skeletal muscle atrophy |
skeletal muscle fibrosis |
skeletal muscle endomysial fibrosis |
muscular atrophy |
hypotonia |
muscle weakness |
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| Availability | Mouse Genotype | |||||||||||||
| Chat/Slc18a3tm1.1Vpra/Chat/Slc18a3tm1.1Vpra | ||||||||||||||
| Chattm1.1Jrs/Chattm1.1Jrs | ||||||||||||||
| Chattm1Mlt/Chattm1Mlt Tg(SLC18A3-cre)KMisa/0 (conditional) |
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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 04/09/2024 MGI 6.23 |
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