Symbol
Name
ID

Large1
LARGE xylosyl- and glucuronyltransferase 1
MGI:1342270

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Dandy-Walker malformation

Facial palsy

Hypoplasia of the pons

Hypoplasia of the brainstem

Lateral ventricle dilatation

Dilated third ventricle

Hydrocephalus

Ventriculomegaly

Pachygyria

Type II lissencephaly

Abnormal periventricular white matter morphology

Aplasia of the inferior half of the cerebellar vermis

Cerebellar hypoplasia

Abnormality of neuronal migration

Babinski sign

Intellectual disability

Intellectual disability, profound

Lower limb hyperreflexia

Areflexia

Bimanual synkinesia

Global developmental delay

Motor delay

Delayed ability to sit

Delayed ability to walk

Disease(s) Associated with LARGE1

congenital muscular dystrophy-dystroglycanopathy type A6

muscular dystrophy-dystroglycanopathy type B6

Mouse Phenotypes		abnormal Schwann cell morphology	absent Schwann cells	abnormal neuromuscular synapse morphology	abnormal spinal nerve morphology	abnormal sciatic nerve morphology	abnormal myelination	abnormal peripheral nervous system regeneration
Availability	Mouse Genotype	abnormal Schwann cell morphology	absent Schwann cells	abnormal neuromuscular synapse morphology	abnormal spinal nerve morphology	abnormal sciatic nerve morphology	abnormal myelination	abnormal peripheral nervous system regeneration
	Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop}
	Large1^myd/Large1^myd
	Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}/Gt(ROSA)26Sor⁺
	Large1^{enr-Tg(MbpReg)36Pop}/Large1⁺

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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