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Symbol
Name
ID

Pomgnt1
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
MGI:1915523

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Elevated circulating creatine kinase concentration	Type II diabetes mellitus	Hyperinsulinemia	Carnosinuria
Disease(s) Associated with POMGNT1	Elevated circulating creatine kinase concentration	Type II diabetes mellitus	Hyperinsulinemia	Carnosinuria
autosomal recessive limb-girdle muscular dystrophy type 2O
congenital muscular dystrophy-dystroglycanopathy type A3
muscular dystrophy
muscular dystrophy-dystroglycanopathy type B3
retinitis pigmentosa

Mouse Phenotypes		decreased circulating glucose level	abnormal enzyme/coenzyme activity
Availability	Mouse Genotype	decreased circulating glucose level	abnormal enzyme/coenzyme activity
	Pomgnt1^tm1Lex/Pomgnt1^tm1Lex
	Pomgnt1^tm1Stk/Pomgnt1^tm1Stk

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23