Gene Summary

mannoside acetylglucosaminyltransferase 1

IMPC Data Collections

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 Mgat1tm1b(EUCOMM)Hmgu HOM   Early adult 1.79×10-06
decreased cardiac stroke volume Mgat1tm1b(EUCOMM)Hmgu HET Early adult 8.68×10-05
decreased exploration in new environment Mgat1tm1b(EUCOMM)Hmgu HET   Early adult 2.25×10-05
decreased red blood cell distribution width Mgat1tm1b(EUCOMM)Hmgu HET   Early adult 8.92×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

36 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Mgat1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mgat1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... ORPHA:90064
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Retinitis Pigmentosa 60
Pallor OMIM:613983
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythro... ORPHA:98870
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure ORPHA:49827
Retinitis Pigmentosa 70
Pallor OMIM:615922
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... ORPHA:71275
Hb Bart'S Hydrops Fetalis
Pallor, Hydrocephalus, Congestive heart failure, Pericarditis ORPHA:163596
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Optic Atrophy 1
Pallor OMIM:165500
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Breath-Holding Spells
Pallor OMIM:607578
Retinitis Pigmentosa 27
Pallor OMIM:613750
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Retinitis Pigmentosa 73
Pallor OMIM:616544
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Evans Syndrome
Pallor, Petechiae, Epistaxis, Syncope ORPHA:1959
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Palpitations, Tachycardia, Syncope ORPHA:324575
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Irritability, Splenomega... ORPHA:231226
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Congestive heart failure ORPHA:90037
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure ORPHA:98375
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Skin ulcer, Hypertrophic cardiomyopathy, Pallor ORPHA:848
American Trypanosomiasis
Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure ORPHA:3386
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Rheumatic Fever
Pallor, Erythema, Arrhythmia, Myocarditis, Pericarditis, Epistaxis ORPHA:3099
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty OMIM:600462
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Tachycardia... ORPHA:3426
Retinitis Pigmentosa 51
Pallor OMIM:613464
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Idiopathic Pulmonary Hemosiderosis
Pallor, Diffuse alveolar hemorrhage, Heart murmur ORPHA:99931
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal... ORPHA:398124
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Tachycardia, Congestive heart failure ORPHA:90033
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Primary Myelofibrosis
Petechiae, Pallor, Purpura, Ecchymosis, Portal hypertension ORPHA:824
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Intrauterine growth retardation OMIM:266200
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation, Short stature OMIM:609053
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Intracranial hemorrhage ORPHA:3226
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Pallor, Purpura OMIM:254450
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Polysplenia, Heterotaxy OMIM:613807
Skin ulcer, Pallor ORPHA:507
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hydrocephalus, Supraventricular tachycardia, Pallor, Tachycardia,... ORPHA:137675
Irida Syndrome
Pallor ORPHA:209981
Renpenning Syndrome
Heterotaxy ORPHA:3242
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Dravet Syndrome
Pallor ORPHA:33069
Waldenström Macroglobulinemia
Pallor, Retinal hemorrhage, Vasculitis, Purpura, Gastrointestinal hemorrhage, Epistaxis, Congesti... ORPHA:33226
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Tachycardia ORPHA:263455
Cold Agglutinin Disease
Pallor ORPHA:56425
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Pallor, Skin ulcer ORPHA:822
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect OMIM:314390
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Sepsis In Premature Infants
Petechiae, Pallor, Tachycardia, Hypotension, Purpura, Bradycardia ORPHA:90051
Elliptocytosis 1
Pallor OMIM:611804
Beta-Thalassemia Major
High-output congestive heart failure, Pallor, Arrhythmia, Dilated cardiomyopathy, Delayed puberty... ORPHA:231214
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Hematochezia ORPHA:329971
Beta-Thalassemia Intermedia
Skin ulcer, Pulmonary arterial hypertension, Pallor, High-output congestive heart failure ORPHA:231222
Myopathy, Mitochondrial, And Ataxia
Pallor, Growth delay, Short stature OMIM:617675
Rare Circulatory System Disease
Intermittent claudication, Pallor ORPHA:98028
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Pulmonic ... OMIM:619657
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Tachycardia ORPHA:348
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Beta-Ketothiolase Deficiency
Pallor, Hypertension, Hypotension ORPHA:134
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Tachycardia, Hypotension, Syncope ORPHA:98849
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Senior-Loken Syndrome 8
Pallor OMIM:616307
Imerslund-Gräsbeck Syndrome
Pallor, Tachycardia ORPHA:35858
Sheehan Syndrome
Pallor, Orthostatic hypotension, Palpitations, Dry skin, Bradycardia ORPHA:91355
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Letterer-Siwe Disease
Pallor OMIM:246400
Pallor, Hypotension, Delayed puberty ORPHA:2965
Childhood Absence Epilepsy
Pallor ORPHA:64280
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Fumarase Deficiency
Pallor OMIM:606812
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Von Hippel-Lindau Disease
Abnormal left ventricular function, Pallor, Palpitations, Arrhythmia, Myocarditis, Myocardial inf... ORPHA:892
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage, Short stature OMIM:308300
Pallor, Orthostatic hypotension ORPHA:95512
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Vasculitis in the skin, Raynaud phenomenon, Pallor, Intracranial hem... ORPHA:3260
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... ORPHA:79277
Diamond-Blackfan Anemia 1
Short stature, Tricuspid stenosis, Pallor, Intrauterine growth retardation, Congestive heart failure OMIM:105650
Pallor, Orthostatic hypotension ORPHA:95513
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... ORPHA:99125
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Delayed p... ORPHA:91347
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Autosomal Recessive Malignant Osteopetrosis
Pallor, Growth delay, Hydrocephalus, Pulmonary arterial hypertension ORPHA:667
Aregenerative Anemia
Pallor ORPHA:101096
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Left Isomerism, Double inlet right ventricle, Atrial septal defect... OMIM:619702
Diets-Jongmans Syndrome
Ventricular septal defect, Umbilical hernia, Heterotaxy OMIM:618846
Fanconi Anemia, Complementation Group C
Anemic pallor, Intrauterine growth retardation, Short stature OMIM:227645
Multiple Endocrine Neoplasia Type 2
Pallor, Hypertension associated with pheochromocytoma, Palpitations, Hypertensive crisis ORPHA:653
Degcags Syndrome
Pulmonic stenosis, Pallor, Tachycardia, Pulmonary arterial hypertension, Intrauterine growth reta... OMIM:619488
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Infection-Related Hemolytic Uremic Syndrome
Pallor, Hypertension, Myocarditis, Hypertensive crisis ORPHA:544482
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature OMIM:600901
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Anemic pallor, Short stature OMIM:227646
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature OMIM:227650
Esophageal Atresia
Pallor, Growth delay ORPHA:1199
Blackfan-Diamond Anemia
Pallor, Growth delay, Short stature ORPHA:124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Hydrocephalus OMIM:253280
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450


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 Mgat1

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 Mgat1.

No publications found that use IMPC mice or data for Mgat1.

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MGI Allele Allele Type Produced
Mgat1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mgat1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Mgat1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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