Gene Summary

Name:
glycogen synthase 1, muscle
Synonyms:
MGS,  Gys3

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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
abnormal skin coloration Gys1em1(IMPC)Bay HOM E18.5 0.00
decreased body length Gys1em1(IMPC)Bay HET Early adult 8.07×10-05
edema Gys1em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, incomplete penetrance Gys1em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Gys1em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Gys1em1(IMPC)Bay HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of left eye

17 Images

Eye Morphology

VIP of left fundus

17 Images

Eye Morphology

VIP of right eye

17 Images

MicroCT E18.5

Embryo reconstruction

6 Images

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
phenotypes
Matching phenotypes Source
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556

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

Disease Similarity of
phenotypes
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
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... ORPHA:75249
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Pulmonary edema, Jaundice, Abnormal b... ORPHA:57777
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pneumonia, ... ORPHA:99103
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Hypoglycemia, Elevated ... OMIM:212140
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypoglycemia, Bronchitis, Patent foramen ovale, P... OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... OMIM:600649
Mastocytosis, Cutaneous
Hypermelanotic macule, Edema OMIM:154800
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:617184
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in childhood, Elevated hepatic transaminase, Death in infancy, Pulmonary arte... OMIM:619064
Hemochromatosis, Type 1
Glucose intolerance, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia,... OMIM:235200
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death OMIM:601612
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Macroglossia, Myopathy, Hypotension, Shortened PR inte... OMIM:261740
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Myopathy, Cardiomyopat... OMIM:617713
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Endocardial fibroelas... OMIM:619313
Chilblain Lupus 2
Edema OMIM:614415
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Lymphatic Malformation 2
Lymphedema OMIM:611944
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Arrhythmia, Elevated hepatic transaminase, Hepatic steato... OMIM:255120
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompaction, Left... OMIM:619167
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Limb hypertonia, Perimembranous ventricular septal ... OMIM:619170
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... ORPHA:70591
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... OMIM:618652
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Hematemesis, Subdural hemorrhage, Persistent bleeding after tr... OMIM:202400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Arrhythmia, Hypoglycemia, Elevated hepatic transaminase, ... ORPHA:42
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Sudden cardiac death, Tachycardia, Elevated cir... OMIM:614921
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Exercise-induce... OMIM:201475
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal enzyme/coenzyme activity, Macroglossia, Left ventricular outflow tract obs... ORPHA:308552
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Neonatal death, Hypoglycemia, Death in infancy, Cardiomyopathy OMIM:618839
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Neonatal death, Hypoglycemia, Death in infancy, Hypertrophic cardiomyop... OMIM:618835
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Fanconi Anemia, Complementation Group O
Miscarriage, Small thenar eminence, Neonatal death, Death in infancy, Abnormal heart morphology OMIM:613390
White Sponge Nevus 2
Edema OMIM:615785
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Reticular pattern on pulmona... ORPHA:99931
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... ORPHA:980
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetric septal hyper... OMIM:252920
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Meacham Syndrome
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:608978
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly, Death in infancy OMIM:618886
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Splenomegaly, Cirrhosis, Hepatocellular ... ORPHA:465508
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Right axis devia... OMIM:232300
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Flexion contracture, Mitral regurgitation, Right bundle branch block, L... OMIM:614008
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Cardiomegaly OMIM:618838
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Pulmonary edema, Right ventricular hypertr... ORPHA:3384
Familial Aortic Dissection
Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly ORPHA:229
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Pulmonary e... ORPHA:137675
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Malformation ... OMIM:208540
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestiv... OMIM:619259
Sandhoff Disease
Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Reduced beta-hexosaminid... OMIM:268800
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Recurrent upper respiratory tract infections, Tetralogy o... ORPHA:95430
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic calcification, Hypoketotic hypoglycemia, Arrhythmia, Reduc... ORPHA:228308
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Pulmonary hypoplasia, Overriding aorta, Cardiomegaly OMIM:617022
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosi... OMIM:602782
Visceral Steatosis, Congenital
Jaundice, Abnormal bleeding, Neonatal death, Hypoglycemia, Myocardial steatosis, Hepatic steatosis OMIM:228100
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Hypertension, Jaundice, Cardiomegaly OMIM:603903
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... ORPHA:158687
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Diastasis... OMIM:265380
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Bruising susceptibility, Hypovolemia, ... ORPHA:91387
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... OMIM:619702
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Abnormal enzyme/coenzyme activity,... ORPHA:365
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa ORPHA:79280
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyperplasia, Enlarged kid... OMIM:130650

Histopathology

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 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
p38γ and p38δ regulate postnatal cardiac metabolism through glycogen synthase 1. PLoS biology (November 2021) Gys1tm1c(EUCOMM)Wtsi PMC8612745
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
Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity. Neurobiology of disease (November 2020) Gys1tm1c(EUCOMM)Wtsi PMC7736642
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
Gys1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gys1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gys1em1(IMPC)Bay Exon Deletion Mice
Gys1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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