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Symbol
Name
ID
Large1
LARGE xylosyl- and glucuronyltransferase 1
MGI:1342270
Phenotype annotations related to muscle
*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
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+ *

Contributing Projects:
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
The Jackson Laboratory