Symbol Name ID |
Large1
LARGE xylosyl- and glucuronyltransferase 1 MGI:1342270 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Facial palsy |
Macroglossia |
Achilles tendon contracture |
Calf muscle hypertrophy |
Joint contracture of the hand |
Elbow flexion contracture |
Flexion contracture |
Hypotonia |
Generalized hypotonia |
Severe muscular hypotonia |
EMG: myopathic abnormalities |
Proximal muscle weakness |
Increased endomysial connective tissue |
Skeletal muscle hypertrophy |
Muscular dystrophy |
Disease(s) Associated with LARGE1 | |||||||||||||||
congenital muscular dystrophy-dystroglycanopathy type A6 | |||||||||||||||
muscular dystrophy-dystroglycanopathy type B6 |
Mouse Phenotypes | muscle phenotype |
abnormal myocardium layer morphology |
abnormal myocardial fiber morphology |
dilated cardiomyopathy |
skeletal muscle necrosis |
skeletal muscle fiber necrosis |
myositis |
abnormal soleus morphology |
abnormal muscle morphology |
abnormal skeletal muscle fiber morphology |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
skeletal muscle fiber degeneration |
abnormal skeletal muscle morphology |
abnormal diaphragm morphology |
skeletal muscle degeneration |
skeletal muscle endomysial fibrosis |
calcified muscle |
dystrophic muscle |
muscle degeneration |
abnormal muscle physiology |
enhanced skeletal muscle regeneration |
myopathy |
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Availability | Mouse Genotype | |||||||||||||||||||||||
Large1enr-Tg(MbpReg)36Pop/Large1enr-Tg(MbpReg)36Pop | ||||||||||||||||||||||||
Large1myd-3J/Large1myd-3J | * | |||||||||||||||||||||||
Large1myd/Large1myd | ||||||||||||||||||||||||
Large1vls/Large1vls | ||||||||||||||||||||||||
Gt(ROSA)26Sortm407(H1/tetO-RNAi:Large)Arte/Gt(ROSA)26Sor+ | * |
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 03/12/2024 MGI 6.23 |
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