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Symbol
Name
ID
Large1
LARGE xylosyl- and glucuronyltransferase 1
MGI:1342270
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Achilles tendon contracture
Pes valgus
Calf muscle hypertrophy
Joint contracture of the hand
Elbow flexion contracture
Disease(s) Associated with LARGE1
congenital muscular dystrophy-dystroglycanopathy type A6
muscular dystrophy-dystroglycanopathy type B6

Mouse Phenotypes
abnormal soleus morphology
Availability Mouse Genotype
Large1myd/Large1myd
Large1vls/Large1vls

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
04/09/2024
MGI 6.23
The Jackson Laboratory