gfpt1 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (536)

Interactants (251)

XB-GENEPAGE-493901

Gene Symbol: gfpt1 Gene Name: glutamine--fructose-6-phosphate transaminase 1

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Manual annotations: gfpt1 assayed (1 source)
Computed annotations: gfpt1 assayed (7 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (40 sources): Abnormal peripheral nervous system synaptic transmission, Areflexia, Difficulty climbing stairs, Difficulty running, Difficulty walking, Distal muscle weakness, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Elevated circulating creatine kinase concentration, Facial palsy, Fatigable weakness, Favorable response of weakness to acetylcholine esterase inhibitors, Flexion contracture, Frequent falls, Generalized hypotonia, Generalized weakness of limb muscles, Gowers sign, High palate, Increased jitter at single fiber EMG, Knee flexion contracture, Limb-girdle muscle weakness, Lumbar hyperlordosis, Mildly elevated creatine kinase, Motor delay, Muscle fiber tubular inclusions, Muscle spasm, Myopathy, Neck muscle weakness, Ophthalmoparesis, Pes planus, Poor head control, Proximal amyotrophy, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Scapular winging, Scoliosis, Type 1 muscle fiber predominance, Waddling gait, obsolete Joint laxity [+]
Mouse (20 sources): abnormal muscle electrophysiology, abnormal myelin sheath morphology, abnormal neuromuscular synapse morphology, abnormal sarcolemma morphology, abnormal sarcoplasmic reticulum morphology, decreased grip strength, decreased myelin sheath thickness, decreased red blood cell distribution width, decreased skeletal muscle fiber size, decreased spleen weight, embryonic lethality prior to tooth bud stage, growth/size/body region phenotype, impaired skeletal muscle contractility, increased skeletal muscle fiber size, increased variability of skeletal muscle fiber size, muscle phenotype, persistence of hyaloid vascular system, preweaning lethality, complete penetrance, skeletal muscle fiber atrophy, skeletal muscle fiber necrosis [+]
View all ortholog results at Monarch