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Gene: Mgat1 MGI:96973

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Gene Summary

Name:
mannoside acetylglucosaminyltransferase 1
Synonyms:
Mgat-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
preweaning lethality, complete penetrance Mgat1tm1b(EUCOMM)Hmgu HOM   Early adult 1.79×10-06
decreased exploration in new environment Mgat1tm1b(EUCOMM)Hmgu HET   Early adult 2.25×10-05
decreased cardiac stroke volume Mgat1tm1b(EUCOMM)Hmgu HET Early adult 8.68×10-05
decreased red blood cell distribution width Mgat1tm1b(EUCOMM)Hmgu HET   Early adult 8.66×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Electrocardiogram (ECG)

Waveform Image

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
phenotypes		 Matching phenotypes Source
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... ORPHA:1330
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Pallor ORPHA:49827
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Hydrocephalus, Pallor ORPHA:163596
Optic Atrophy 1
Pallor OMIM:165500
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Breath-Holding Spells
Pallor OMIM:607578
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Evans Syndrome
Pallor, Syncope, Epistaxis, Petechiae ORPHA:1959
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Rheumatic Fever
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia ORPHA:3099
Retinitis Pigmentosa 51
Pallor OMIM:613464
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Heterotaxy, ... ORPHA:3426
Idiopathic Pulmonary Hemosiderosis
Pallor, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Primary Myelofibrosis
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor ORPHA:3226
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Pallor OMIM:609053
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Myelofibrosis
Pallor, Purpura OMIM:254450
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Polysplenia OMIM:613807
Irida Syndrome
Pallor ORPHA:209981
Dravet Syndrome
Pallor ORPHA:33069
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Renpenning Syndrome
Heterotaxy ORPHA:3242
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Atrioventricular canal defect, ... OMIM:618300
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Cold Agglutinin Disease
Pallor ORPHA:56425
Hereditary Spherocytosis
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Retinitis Pigmentosa 75
Pallor OMIM:617023
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Neonatal death, Atri... OMIM:314390
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer ORPHA:231222
Sepsis In Premature Infants
Tachycardia, Pallor, Bradycardia, Hypotension, Petechiae, Purpura ORPHA:90051
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Growth delay, Anemic pallor ORPHA:329971
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231214
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Elliptocytosis 1
Pallor OMIM:611804
Tay-Sachs Disease
Pallor OMIM:272800
Beta-Ketothiolase Deficiency
Hypertension, Pallor, Hypotension ORPHA:134
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu... OMIM:619657
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Diamond-Blackfan Anemia 1
Short stature, Tricuspid stenosis, Congestive heart failure, Pallor, Intrauterine growth retardat... OMIM:105650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Pallor, Hypotension ORPHA:98849
Senior-Loken Syndrome 8
Pallor OMIM:616307
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Childhood Absence Epilepsy
Pallor ORPHA:64280
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Letterer-Siwe Disease
Pallor OMIM:246400
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Incontinentia Pigmenti
Pallor, Erythema, Short stature, Retinal hemorrhage OMIM:308300
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... ORPHA:91347
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Pulmonary arterial hypertension, Hydrocephalus, Pallor ORPHA:667
Aregenerative Anemia
Pallor ORPHA:101096
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... OMIM:619702
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor, Short stature OMIM:227645
Fumarase Deficiency
Pallor OMIM:606812
Diets-Jongmans Syndrome
Umbilical hernia, Heterotaxy, Ventricular septal defect OMIM:618846
Degcags Syndrome
Tachycardia, Pulmonary arterial hypertension, Pallor, Pulmonic stenosis, Intrauterine growth reta... OMIM:619488
Multiple Endocrine Neoplasia Type 2
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pallor, Hypertensive crisis ORPHA:544482
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
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
Diamond-Blackfan Anemia
Growth delay, Short stature, Pallor ORPHA:124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor OMIM:253280
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450

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 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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