Large1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Large1
LARGE xylosyl- and glucuronyltransferase 1
MGI:1342270

70 phenotypes from 6 alleles in 9 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Large1^{enr-Tg(MbpReg)36Pop}/Large1⁺ involves: C57BL/6J * DBA/2J * SJL/J	abnormal peripheral nervous system regeneration	J:29784
	abnormal Schwann cell morphology	J:29784
Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} involves: C57BL/6J * DBA/2J	abnormal limb posture	J:16281
	abnormal myelination	J:16281
	abnormal posture	J:16281
	abnormal skeletal muscle fiber morphology	J:16281
	abnormal skeletal muscle morphology	J:16281
	decreased body size	J:16281
	kyphosis	J:16281
	male infertility	J:16281
	postnatal lethality	J:16281
	premature death	J:16281
	reduced female fertility	J:16281
	skeletal muscle endomysial fibrosis	J:16281
	skeletal muscle fiber necrosis	J:16281
Large1^{enr-Tg(MbpReg)36Pop}/Large1^{enr-Tg(MbpReg)36Pop} involves: C57BL/6J * DBA/2J * SJL/J	abnormal myelination	J:29784
	abnormal peripheral nervous system regeneration	J:29784
	abnormal Schwann cell morphology	J:29784
	abnormal sciatic nerve morphology	J:29784
Large1^m1Btlr/Large1^m1Btlr C57BL/6J-Large1^m1Btlr	abnormal vertebral column morphology	J:307652
Large1^myd-3J/Large1^myd-3J STOCK Large1^myd-3J/GrsrJ	abnormal gait	J:160357
	abnormal retina neuronal layer morphology	J:160357
	male infertility	J:160357
	normal muscle phenotype	J:160357
	myopathy	J:160357
	skeletal muscle degeneration	J:160357
Large1^myd/Large1⁺ B6C3Fe a/a-Large1^myd/J	limb grasping	J:27793
Large1^myd/Large1^myd B6.Cg-Large1^myd/Pjn	abnormal diaphragm morphology	J:100214
	abnormal eye electrophysiology	J:100214
	abnormal myocardium layer morphology	J:100214
	abnormal retina layer morphology	J:100214
	abnormal soleus morphology	J:100214
	dilated cardiomyopathy	J:100214
	disorganized retina outer plexiform layer	J:100214
	thin retina outer nuclear layer	J:100214
Large1^myd/Large1^myd B6C3Fe a/a-Large1^myd/J	abnormal auditory brainstem response waveform shape	J:27793
	abnormal enzyme/coenzyme activity	J:144746
	abnormal gait	J:27793
	abnormal myocardial fiber morphology	J:169951
	abnormal myocardium layer morphology	J:169951
	abnormal skeletal muscle fiber morphology	J:27793
	calcified muscle	J:27793
	centrally nucleated skeletal muscle fibers	J:27793
	decreased body size	J:27793
	dystrophic muscle	J:144746
	increased circulating creatine kinase level	J:27793
	increased variability of skeletal muscle fiber size	J:27793
	limb grasping	J:27793
	myositis	J:27793
	sensorineural hearing loss	J:27793
	skeletal muscle fiber degeneration	J:27793
	skeletal muscle fiber necrosis	J:27793
Large1^myd/Large1^myd MYD/Le-Os +/+ Large^myd/J	abnormal bone structure	J:12034
	abnormal gait	J:5670
	abnormal muscle morphology	J:5670
	abnormal muscle physiology	J:5670
	abnormal myelination	J:5974
	abnormal skeletal muscle fiber morphology	J:5670
	abnormal spinal nerve morphology	J:5974
	abnormal tongue morphology	J:5670
	absent Schwann cells	J:5974
	calcified muscle	J:12034
	decreased body weight	J:5670
	dystrophic muscle	J:5670
	kyphosis	J:5670
	limb grasping	J:5670
	muscle degeneration	J:5670
	myopathy	J:5670
	myositis	J:5670
	postnatal growth retardation	J:5670
	premature death	J:5670
	reduced fertility	J:5670
Large1^vls/Large1^vls B6.CAST(Cg)-Large1^vls/Pjn	abnormal diaphragm morphology	J:100214
	abnormal eye electrophysiology	J:100214
	abnormal myocardium layer morphology	J:100214
	abnormal retina ganglion layer morphology	J:100214
	abnormal retina inner nuclear layer morphology	J:100214
	abnormal retina layer morphology	J:100214
	abnormal retina neuronal layer morphology	J:100214
	abnormal retina outer plexiform layer morphology	J:100214
	abnormal retina vasculature morphology	J:100214
	abnormal soleus morphology	J:100214
	abnormal vitreous body morphology	J:100214
	decreased body size	J:100214
	decreased grip strength	J:100214
	dilated cardiomyopathy	J:100214
	disorganized retina ganglion layer	J:100214
	disorganized retina outer plexiform layer	J:100214
	increased circulating creatinine level	J:100214
	thin retina inner nuclear layer	J:100214
	thin retina outer plexiform layer	J:100214
	vitreal fibroplasia	J:100214
	vitreous body deposition	J:100214
Tg(CAG-Large)#Kcam/0 B6J.B6NTac-Tg(CAG-Large)#Kcam	decreased skeletal muscle fiber diameter	J:206057
Gt(ROSA)26Sor/Gt(ROSA)26Sor⁺ B6.Cg-Gt(ROSA)26Sor^{tm407(H1/tetO-RNAi:Large)Arte}	abnormal basement membrane morphology	J:206057
	abnormal neuromuscular synapse morphology	J:206057
	centrally nucleated skeletal muscle fibers	J:206057
	dystrophic muscle	J:206057
	enhanced skeletal muscle regeneration	J:206057
	increased susceptibility to injury	J:206057
	limb grasping	J:206057
	normal muscle phenotype	J:206057
	skeletal muscle endomysial fibrosis	J:206057
	skeletal muscle necrosis	J:206057

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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