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Symbol
Name
ID
Large1
LARGE xylosyl- and glucuronyltransferase 1
MGI:1342270
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Elevated circulating creatine kinase concentration
Elevated circulating aspartate aminotransferase concentration
Increased circulating lactate dehydrogenase concentration
Disease(s) Associated with LARGE1
congenital muscular dystrophy-dystroglycanopathy type A6
muscular dystrophy-dystroglycanopathy type B6

Mouse Phenotypes
increased circulating creatinine level
increased circulating creatine kinase level
abnormal enzyme/coenzyme activity
increased susceptibility to injury
Availability Mouse Genotype
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