Gene Summary

Name:
tRNA methyltransferase 1
Synonyms:
6720406L13Rik,  D8Ertd812e

IMPC Data Collections

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 kidney morphology Trmt1tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal liver morphology Trmt1tm1b(EUCOMM)Hmgu HET Early adult 0.00
abnormal retina vasculature morphology Trmt1tm1b(EUCOMM)Hmgu HET Early adult 2.85×10-07
increased mean corpuscular volume Trmt1tm1b(EUCOMM)Hmgu HET Early adult 2.29×10-05
abnormal retina blood vessel morphology Trmt1tm1b(EUCOMM)Hmgu HET Early adult 1.07×10-06
decreased circulating cholesterol level Trmt1tm1b(EUCOMM)Hmgu HET Early adult 9.00×10-06
prolonged QRS complex duration Trmt1tm1b(EUCOMM)Hmgu HET Early adult 2.91×10-06
preweaning lethality, incomplete penetrance Trmt1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Gross Pathology and Tissue Collection

Images

2 Images

Human diseases caused by Trmt1 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 Trmt1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Specific Syndromic Intellectual Disability
Retinal atrophy, Papilledema ORPHA:528084
Intellectual Developmental Disorder, Autosomal Recessive 68
OMIM:618302

The table below shows human diseases predicted to be associated to Trmt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... ORPHA:3202
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Anisocytosis, Spleno... OMIM:616860
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, E... ORPHA:90044
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Decreased serum iron, Anisocytosis, Retinal atrophy, Anemia, ... OMIM:616959
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Abnormality of the liver, Hemolytic-uremic syndrome, Neutropen... ORPHA:2169
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Cholelithiasis, Decreased liver fun... ORPHA:231222
Chylomicron Retention Disease
Retinopathy, Hepatic steatosis, Increased hepatocellular lipid droplets, Acanthocytosis, Elevated... ORPHA:71
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Retinal hemorrhage, Acute myeloid leuke... ORPHA:86839
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Elevated ... OMIM:232700
Retinal Venous Beading
Retinal neovascularization, Neutropenia, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Chronic hemolytic anemia, Elliptocytosis, Decreased me... OMIM:617948
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Rod-cone dystrophy, Retinal dystrophy, Hypocholesterolemia, Steatorrhea OMIM:266510
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Subretinal fluid, Rhegmatogenous retinal ... ORPHA:891
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hepatosplenomegaly, Hypokalemia, Distal renal tubular acidosis, He... OMIM:611590
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia, Methylmalonic ... OMIM:277410
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Mitral regurgitation, Macrocytic ... OMIM:612561
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Retinal detachment, Posterior retinal neov... OMIM:193235
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Anemia, E... ORPHA:300298
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Right bundle branch block OMIM:613158
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, Th... ORPHA:811
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231214
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Acanthocytosis, Elevated circulating creatine kinase concentration, Pigment... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Ia
Renal cyst, Hepatic steatosis, Nephrotic syndrome, Proteinuria, Thrombocytosis, Proximal tubulopa... OMIM:212065
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Diamond-Blackfan Anemia 7
Horseshoe kidney, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia, Vesicoureter... OMIM:612562
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Optic nerve hypoplasia, Increased mean corpuscular volume, Mitral regurgi... ORPHA:261250
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Congestive heart failure, Decreased LDL cholesterol concentration, ... ORPHA:14
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Aapoaiv Amyloidosis
Sinus bradycardia, Glomerular sclerosis, Elevated circulating creatinine concentration, Hyperlipi... ORPHA:439232
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Glomerular sclerosis, Normocytic anemia, Elevated circulating creatinine conc... ORPHA:247691
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Right bundle branch b... ORPHA:206559
Lysosomal Acid Lipase Deficiency
Hepatic failure, Anemia, Hypersplenism, Thrombocytopenia, Decreased HDL cholesterol concentration... OMIM:278000
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Sple... ORPHA:398124
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Blackfan-Diamond Anemia
Leukopenia, Horseshoe kidney, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Hypos... ORPHA:124
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Loeffler Endocarditis
Eosinophilia, Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestiv... ORPHA:75566
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Elevated circulating apolipoprotein ... OMIM:144250
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatocellular ... OMIM:618278
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulati... OMIM:210250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, Right bundle branch block OMIM:616479
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Reduced ejection fraction, Arrhythmia, Congestive ... ORPHA:85451
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... ORPHA:99106
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Castleman Disease
Hematuria, Elevated circulating C-reactive protein concentration, Jaundice, Anemia, Restrictive c... ORPHA:160
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Scorpion Envenomation
Glycosuria, Hypokalemia, Premature ventricular contraction, T-wave inversion, Bundle branch block... ORPHA:466677
Fabry Disease
Proteinuria, Bundle branch block, Telangiectasia of the skin, Anemia, Hypertension, Mitral regurg... ORPHA:324
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Hepatic failure, Proteinuria, Bundle branch block, Hype... ORPHA:99827
Alg12-Cdg
Hyponatremia, Micropenis, Retinal detachment, B lymphocytopenia, Hypoalbuminemia, Elevated hepati... ORPHA:79324
Histiocytoid Cardiomyopathy
Renal cyst, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart fail... ORPHA:137675
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Right bundle branch block ORPHA:254361
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Cirrhosis, Secondary hyperaldosteronism, Intestinal bleeding, Reduced ... ORPHA:90363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased H... ORPHA:247598
Atrial Septal Defect, Coronary Sinus Type
Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second heart sound, ... ORPHA:99104
Tangier Disease
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Congestive heart failure, Abnormal atrioventricular conduction, Right bund... ORPHA:439
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatic failure, Elevated circulating acylcarnitine concentration, Polycy... ORPHA:228308
Primary Hyperoxaluria
Retinopathy, Aciduria, Nephrocalcinosis, Hematuria, Optic atrophy, Hypercalciuria, Chronic kidney... ORPHA:416
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block, Optic atrophy OMIM:619576
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Mucosal telangiectasiae, Arrhythmia, Bundle branch block, Elevated c... ORPHA:93672
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Increased HDL cholesterol concentration, Abnormal left ventricular function, Con... ORPHA:70591
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Congestive heart failure, Sudden cardiac death, Right bundle branch block, Atrial fib... ORPHA:1880
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Elevated circulating creatine... ORPHA:268
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Optic disc pallor OMIM:244450
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Left anterior fascicular block, Elevated circulat... ORPHA:437572
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal cyst, Elevated 7-dehydrocholesterol, Micropenis, Hydronephrosis,... OMIM:270400
Noonan Syndrome With Multiple Lentigines
Arrhythmia, Hypertrophic cardiomyopathy, Bundle branch block, Myocardial infarction, Pulmonic ste... ORPHA:500
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Ureteral duplication, Hydronephrosis, Bundle branch block, Splenomegaly, Hypoplas... ORPHA:373
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Optic atrophy OMIM:618590
Leopard Syndrome 1
Unilateral renal agenesis, Micropenis, Third degree atrioventricular block, Bundle branch block, ... OMIM:151100
Cutis Laxa, Autosomal Recessive, Type Iid
Micropenis, Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure OMIM:617403
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency OMIM:619322
Aortic Arch Interruption
Systolic heart murmur, Aortic regurgitation, Congestive heart failure, Shock, Absent pulse, Right... ORPHA:2299
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia, Right bundle branch block, Pulmonic stenosis, Mitral regurgitation, Tricu... OMIM:617506
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypertension, Hypertension, Mitr... OMIM:614008
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Cutis Laxa, Autosomal Recessive, Type Iic
Tricuspid regurgitation, Right bundle branch block, Aortic regurgitation OMIM:617402
Non-Specific Syndromic Intellectual Disability
Retinal atrophy, Papilledema ORPHA:528084
Intellectual Developmental Disorder, Autosomal Recessive 68
OMIM:618302

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 Trmt1

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 Trmt1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Trmt10atm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Trmt10atm1a(EUCOMM)Wtsi PMC6459510
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell (July 2013) Trmt10atm1a(EUCOMM)Wtsi PMC3717207

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MGI Allele Allele Type Produced
Trmt1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Trmt1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Trmt1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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