Gene Summary

glycogen synthase 1, muscle
Gys3,  MGS

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Gys1em1(IMPC)Bay HOM Early adult 0.00
preweaning lethality, incomplete penetrance Gys1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gys1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gys1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556

The table below shows human diseases predicted to be associated to Gys1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Death in infancy, Cardiomegaly OMIM:227150
Stillbirth OMIM:265880
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regurgitation, Right atr... ORPHA:99103
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Reduced muscle carnitine level, Hepatic steatosis, Endocardial fib... OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Timothy Syndrome
Ventricular septal defect, Bronchitis, Pneumonia, Hypoglycemia, Cardiomegaly, Prolonged QT interv... OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Increased circulating lactate dehydrogen... OMIM:600649
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Familial Atrial Myxoma
Tricuspid regurgitation, Cholestasis, Cardiac myxoma, Jaundice, Heart murmur, Congestive heart fa... ORPHA:615
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Bilateral lung agenesis, Tracheal atresia OMIM:601612
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Hepatomegaly, Death in childhood, Cardiomegaly, ... OMIM:619064
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Elevated hepatic transaminase, Glucose intolerance, Pleural effusion, Hepa... OMIM:235200
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,... OMIM:616028
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Hypotension, Biventricular hypertrophy, Congestive heart fai... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy... OMIM:617713
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Congestive heart fa... OMIM:613426
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Death in childhood, Cardiomegaly, Splenomegaly, Anteverte... OMIM:269920
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomeg... OMIM:255120
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent fo... OMIM:618652
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Mulibrey Nanism
Myocardial fibrosis, Hypoplastic frontal sinuses, Wide nasal bridge, Hepatomegaly, Congestive hea... OMIM:253250
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonke... OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Recurrent lower respiratory tract infe... OMIM:619170
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve m... ORPHA:324410
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Decreas... ORPHA:42
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Macroglossia, Facial hypotonia, Increased circulating lactate dehydr... ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Hypoglycemia, Neonatal death, Decreased liver function, Cardiomyopathy OMIM:618839
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Hypoglycemia, Neonatal death, Decreased liver function, Hypertrophic cardiomyop... OMIM:618835
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Death in infancy, Cardiomegaly, Hypertension OMIM:618886
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Scimitar Syndrome
Single ventricle, Bronchogenic cyst, Dextrocardia, Double outlet right ventricle, Pulmonary arter... ORPHA:185
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Hepatomegaly, Cardio... OMIM:252920
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Decreased muscle mass, Hepatocellular carcinoma, Elevated jugular venous p... ORPHA:465508
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Hypertension, Cardiomegaly, Pulmonary arterial hypertension, Anteverted nares, Wide n... OMIM:613320
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy OMIM:256550
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Elevated hepatic transaminase, Bulbous nose, Enla... OMIM:608836
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Familial Aortic Dissection
Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, H... ORPHA:137675
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Hepatomegaly, Death ... OMIM:268800
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Anteverted nares, V... OMIM:602782
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Limb muscle weakness, Increased hepatic glycogen content,... OMIM:619259
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Craniofaciofrontodigital Syndrome
Short nose, Abnormal heart morphology, Cardiomegaly, Anteverted nares, Ecchymosis, Depressed nasa... OMIM:114620
Sickle Cell Anemia
Cholelithiasis, Hypertension, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly OMIM:603903
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Hepatic calcification, Car... ORPHA:228308
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta OMIM:617022
Visceral Steatosis, Congenital
Abnormal bleeding, Myocardial steatosis, Hepatic steatosis, Hypoglycemia, Jaundice, Neonatal death OMIM:228100
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolemic shock, Cardiom... ORPHA:158687
Mucolipidosis Ii Alpha/Beta
Increased serum iduronate sulfatase level, Macroglossia, Diastasis recti, Recurrent pneumonia, Re... OMIM:252500
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Respiratory tract infection, Facial hypotonia, Abnorm... ORPHA:365
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lip telangiectasia, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Cardiomegaly, ... ORPHA:79280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Pulmonary insufficiency, Alveolar capillary dysplasia, Pulmo... OMIM:265380
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mellit... ORPHA:96191
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hepatomega... OMIM:130650
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Recurrent respiratory infections, Aortic valve stenos... OMIM:182250


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gys1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gys1.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome. Human molecular genetics (January 2021) Gys1tm1a(EUCOMM)Wtsi 33219378
Neutrophils Fuel Effective Immune Responses through Gluconeogenesis and Glycogenesis. Cell metabolism (December 2020) Gys1tm1c(EUCOMM)Wtsi PMC7863914
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice. The Journal of biological chemistry (December 2020) Gys1tm1a(EUCOMM)Wtsi PMC7857511
Lack of Neuronal Glycogen Impairs Memory Formation and Learning-Dependent Synaptic Plasticity in Mice. Frontiers in cellular neuroscience (August 2019) Gys1tm1c(EUCOMM)Wtsi PMC6700221
Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease. Glia (August 2018) Gys1tm1a(EUCOMM)Wtsi 30152044
Genetic models rule out a major role of beta cell glycogen in the control of glucose homeostasis. Diabetologia (January 2016) Gys1tm1c(EUCOMM)Wtsi 26825527
Neuronal glycogen synthesis contributes to physiological aging. Aging cell (July 2014) Gys1tm1a(EUCOMM)Wtsi PMC4331761
Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease. Human molecular genetics (January 2014) Gys1tm1a(EUCOMM)Wtsi 24452334
Impairment in long-term memory formation and learning-dependent synaptic plasticity in mice lacking glycogen synthase in the brain. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism (January 2013) Gys1tm1c(EUCOMM)Wtsi Gys1tm1a(EUCOMM)Wtsi PMC3618391

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MGI Allele Allele Type Produced
Gys1em1(IMPC)Bay Exon Deletion Mice
Gys1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gys1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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