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Gene: Trmt1 MGI:1289155

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Gene Summary

Name:
tRNA methyltransferase 1
Synonyms:
6720406L13Rik,  D8Ertd812e

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

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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

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Gross Pathology and Tissue Collection

Images

2 Images

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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
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
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Cholelithiasis, Conge... ORPHA:3202
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Rod-cone dystrophy, Decreased LDL ch... OMIM:615558
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... ORPHA:90044
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... OMIM:613694
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... OMIM:616959
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... OMIM:613839
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Abnormality of the liver, Hyperhomocystinemia, Hypertension, Pancytope... ORPHA:2169
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... OMIM:613697
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... OMIM:607765
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decr... ORPHA:231222
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ... ORPHA:86839
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Chylomicron Retention Disease
Hypertriglyceridemia, Retinopathy, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis,... ORPHA:71
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Multicystic kidney dysplasia, Inc... OMIM:619774
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Isothenuria, Reticulocytosis, Hepatosplenomegaly, Decreased mean c... OMIM:611590
Elliptocytosis 3
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... OMIM:617948
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip... OMIM:232700
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Peroxisome Biogenesis Disorder 3B
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal dystrophy, Steatorr... OMIM:266510
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... OMIM:277410
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... ORPHA:300298
Eisenmenger Syndrome
Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, Hepatomegaly,... ORPHA:97214
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Ischemic stroke, Macular edema, Vitritis, Tra... ORPHA:40923
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Increased mean corpuscular volume, ... OMIM:127550
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231226
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... ORPHA:439232
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Elevated hepatic transami... ORPHA:811
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Anisopoikilocytosis,... ORPHA:231214
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Elevate... ORPHA:206559
Maternal Uniparental Disomy Of Chromosome 4
Rod-cone dystrophy, Decreased LDL cholesterol concentration, Optic atrophy, Neurogenic bladder, E... ORPHA:96180
Diamond-Blackfan Anemia 7
Vesicoureteral reflux, Horseshoe kidney, Macrocytic anemia, Increased mean corpuscular volume, Ne... OMIM:612562
Abetalipoproteinemia
Anemia, Rod-cone dystrophy, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration,... ORPHA:14
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Optic nerve hypoplasia, Mitral regurgitation, Increased mean corpuscular ... ORPHA:261250
Apolipoprotein C-Ii Deficiency
Splenomegaly, Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hepatom... OMIM:207750
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic acid concentration, ... OMIM:618156
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:300695
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nodular regenerative hyperplasia of liver, Telangiectasia, Macular edema, Punctate vasculitis ski... ORPHA:247691
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... OMIM:115197
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Right bundle branch block, T-wave inversion, ... ORPHA:263297
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract... ORPHA:563
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Rod-cone dystrophy, Hepatic fibrosis, Nephrotic syndrome, Elevated hepatic ... OMIM:212065
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Retinal neova... OMIM:193220
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hypertrophic cardiomyopathy, Micropenis, Hepatomegaly OMIM:618810
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... OMIM:224700
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... ORPHA:99106
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Elevated hepatic transaminase, Elevated circulating creatine kinase con... OMIM:610131
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Unco... OMIM:618278
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Castleman Disease
Anemia, Restrictive cardiomyopathy, Renal insufficiency, Jaundice, Ureteral obstruction, Hematuri... ORPHA:160
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:605814
Hyperlipoproteinemia, Type I
Splenomegaly, Lipemia retinalis, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, ... OMIM:238600
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholang... ORPHA:69663
Fabry Disease
Abnormal circulating lipid concentration, Optic atrophy, Angina pectoris, Hypertrophic cardiomyop... ORPHA:324
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Optic atrophy, Wolff-Parkinson-White syn... ORPHA:137675
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve... ORPHA:99827
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:616479
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Ketonuria, T-wave inversion, Cardiogenic shock,... ORPHA:466677
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Alg12-Cdg
B lymphocytopenia, Elevated hepatic transaminase, Hypocholesterolemia, Hypospadias, Hyponatremia,... ORPHA:79324
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... ORPHA:99104
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Elevated circulating creatine kinase concentration ORPHA:254361
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Enuresis ORPHA:589821
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transfer... ORPHA:90363
Tangier Disease
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia ORPHA:31150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Heart block, Hepatic ste... ORPHA:228308
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mitral regurgitation, Right bundle branch block, Optic atrophy, Tricuspid regurgitation OMIM:619576
Primary Hyperoxaluria
Elevated urine glycolate, Retinopathy, Arterial occlusion, Optic atrophy, Calcium oxalate nephrol... ORPHA:416
Myotonic Dystrophy 2
Right bundle branch block, Elevated circulating creatine kinase concentration, Premature ventricu... OMIM:602668
Juvenile Dermatomyositis
Mucosal telangiectasiae, Calcinosis, Bundle branch block, Telangiectasia of the skin, Vasculitis,... ORPHA:93672
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... ORPHA:1880
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Heart murmur, Hypertension, Elevated circulating creatine kinase concentration, Abnormal left ven... ORPHA:437572
Smith-Lemli-Opitz Syndrome
Cirrhosis, Hypertension, Unilateral renal agenesis, Renal cyst, Hypertrophic cardiomyopathy, Hypo... OMIM:270400
Dubowitz Syndrome
Rod-cone dystrophy, Acute lymphoblastic leukemia, Hypospadias, Hypocholesterolemia, Aplastic anemia OMIM:223370
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Decreased urine out... ORPHA:542323
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Pollakisuria, Reduced left ventricular ejection fraction, Abnormal EKG... ORPHA:268
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Optic disc pallor OMIM:244450
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infarction, Hypospadias, Arrhythmia,... ORPHA:500
Simpson-Golabi-Behmel Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Bundle branch block, Polysplenia, Hydroureter, Hypo... ORPHA:373
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Optic atrophy OMIM:618590
Leopard Syndrome 1
Third degree atrioventricular block, Bundle branch block, Unilateral renal agenesis, Hypertrophic... OMIM:151100
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency OMIM:619322
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo... ORPHA:2299
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Right bundle branch block, Optic nerve hypoplasia, Mitral regurgitation, Pulmonic stenosis, Tricu... OMIM:617506
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Mitr... OMIM:614008
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Cutis Laxa, Autosomal Recessive, Type Iid
Micropenis, Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure OMIM:617403
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Right bundle branch block, Tricuspid regurgitation OMIM:617402
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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