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Symbol
Name
ID

Large1
LARGE xylosyl- and glucuronyltransferase 1
MGI:1342270

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes	Dandy-Walker malformation	Achilles tendon contracture	Joint contracture of the hand	Elbow flexion contracture	Flexion contracture
Disease(s) Associated with LARGE1	Dandy-Walker malformation	Achilles tendon contracture	Joint contracture of the hand	Elbow flexion contracture	Flexion contracture
congenital muscular dystrophy-dystroglycanopathy type A6
muscular dystrophy-dystroglycanopathy type B6

Mouse Phenotypes		abnormal vertebral column morphology	kyphosis	abnormal bone structure
Availability	Mouse Genotype	abnormal vertebral column morphology	kyphosis	abnormal bone structure
	Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop}
	Large1^m1Btlr/Large1^m1Btlr
	Large1^myd/Large1^myd

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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