Symbol
Name
ID

Gfpt1
glutamine fructose-6-phosphate transaminase 1
MGI:95698

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Facial palsy	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Easy fatigability	Muscle spasm	Fatigable weakness	Neck muscle weakness	Proximal muscle weakness	Gowers sign	Ragged-red muscle fibers	Proximal amyotrophy
Disease(s) Associated with GFPT1
congenital myasthenic syndrome 12

Mouse Phenotypes

muscle phenotype

skeletal muscle fiber necrosis

abnormal sarcolemma morphology

abnormal sarcoplasmic reticulum morphology

abnormal skeletal muscle fiber morphology

decreased skeletal muscle fiber size

skeletal muscle fiber atrophy

increased skeletal muscle fiber size

increased variability of skeletal muscle fiber size

centrally nucleated skeletal muscle fibers

impaired skeletal muscle contractility

abnormal muscle electrophysiology

increased muscle fatigability

muscle weakness

myopathy

Availability

Mouse Genotype

Gfpt1^{tm1c(EUCOMM)Wtsi}/Gfpt1^{tm1c(EUCOMM)Wtsi}
Tg(Ckmm-cre)5Khn/0 (conditional)

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 04/30/2024 MGI 6.23