Gene Summary

Name:
tropomyosin 1, alpha
Synonyms:
TM2,  Tm3,  alpha-TM,  Tpm-1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
increased circulating creatine kinase level Tpm1tm1a(EUCOMM)Wtsi HET Early adult 7.31×10-05
increased circulating creatinine level Tpm1tm1a(EUCOMM)Wtsi HET Early adult 4.16×10-06
increased heart weight Tpm1tm1a(EUCOMM)Wtsi HET   Early adult 1.73×10-08
increased blood uric acid level Tpm1tm1a(EUCOMM)Wtsi HET Early adult 4.59×10-06
decreased body weight Tpm1tm1a(EUCOMM)Wtsi HET Early adult 3.72×10-05
increased thermal nociceptive threshold Tpm1tm1a(EUCOMM)Wtsi HET Early adult 9.80×10-05
increased startle reflex Tpm1tm1a(EUCOMM)Wtsi HET Early adult 4.53×10-07

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.

Legacy Phenotype Associated Images

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Human diseases caused by Tpm1 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 Tpm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy ORPHA:154
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196

The table below shows human diseases predicted to be associated to Tpm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis OMIM:236750
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Fetal distress, Reduced ejection fraction, Paroxysmal su... ORPHA:45452
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Abnormal heart morpholo... ORPHA:1041
Cardiomyopathy, Familial Hypertrophic 27
Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Hydrops fetalis OMIM:618052
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Ascites, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonic s... OMIM:619433
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Cardiomyopathy, Atrial septal defect, Oligohydramnios... ORPHA:1909
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Ventricular hypertrophy, Atr... OMIM:115197
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic ste... ORPHA:2414
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Hb Bart'S Hydrops Fetalis
Preeclampsia, Pericarditis, Polyhydramnios, Oligohydramnios, Congestive heart failure, Hydrops fe... ORPHA:163596
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia sequence, Bradycardia, Hydrop... OMIM:618815
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios, Single umbilical ... ORPHA:3405
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Azotemia, Familial
Azotemia OMIM:109160
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Lesch-Nyhan Syndrome
Hyperuricemia ORPHA:510
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hyperuricemia ORPHA:3222
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Diffuse Neonatal Hemangiomatosis
Ascites, Premature birth, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis ORPHA:2123
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Atrial septal defect, Hydrops fetalis ORPHA:101028
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Glycogen Storage Disease Iv
Ascites, Edema, Decreased fetal movement, Cardiomyopathy, Polyhydramnios, Portal hypertension, Hy... OMIM:232500
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Action tremor, Hyperuricemia ORPHA:77296
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid OMIM:608540
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Achondrogenesis, Type Ib
Edema, Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis OMIM:600972
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Chondrodysplasia, Blomstrand Type
Premature birth, Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:215045
Klippel-Trénaunay Syndrome
Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal h... ORPHA:90308
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Oligohydramnios, Atria... OMIM:601927
Hyperuricemia, Hprt-Related
Hyperuricosuria, Hyperuricemia OMIM:300323
Infantile Sialic Acid Storage Disease
Ascites, Premature birth, Cardiomegaly, Congestive heart failure, Hydrops fetalis OMIM:269920
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Polyhydramnios ORPHA:2204
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Fetal distress, Pericardial effusion, Premature birth, Decreased feta... ORPHA:292
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Edema, Mitral stenosis, Tricuspid valve prolapse, Tricu... OMIM:212093
Burkitt Lymphoma
Hyperuricemia ORPHA:543
Distal 16P11.2 Microdeletion Syndrome
Obesity, Hyperuricemia ORPHA:261222
Mulibrey Nanism
Pericardial constriction, Ascites, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, H... OMIM:253250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia OMIM:617056
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Decreased plasma carnitine, Hyperuricemia, Hyperammonemia OMIM:246450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Failure to thrive, Hyperuricemia OMIM:613845
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... OMIM:619313
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Small for gestationa... OMIM:616733
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Edema, Decreased fetal movement, Abnormal cardiac septum morphology OMIM:608776
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Premature birth, Card... ORPHA:555874
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperuricemia OMIM:102730
Cystinuria
Hyperuricemia ORPHA:214
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia OMIM:300661
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Pre... ORPHA:363705
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly, Hypoalbuminemia ORPHA:88643
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia ORPHA:411536
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Neuraminidase Deficiency
Ascites, Cardiomegaly, Cardiomyopathy, Facial edema, Hydrops fetalis OMIM:256550
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Ascites, Palpebral edema, Palmar telangiectasia, Pleural effusion, Hydrop... ORPHA:69735
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Preeclampsia
Elevated circulating creatinine concentration, Increased body mass index, Small for gestational age ORPHA:275555
Fetal Gaucher Disease
Intracranial hemorrhage, Fetal akinesia sequence, Neonatal death, Decreased fetal movement, Still... ORPHA:85212
Sialidosis Type 2
Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Xanthinuria, Type Ii
Hypouricemia OMIM:603592
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Hyperuricemia, Hypertriglyceridemia ORPHA:79083
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Hepatomegaly, Large for gestational age OMIM:616026
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Elevated pulmonary artery pressure, Pulmonary ed... ORPHA:199241
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Lesch-Nyhan Syndrome
Opisthotonus, Hyperuricemia, Hyperuricosuria OMIM:300322
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Congestive heart failure, Abnormality of the amniotic fluid, Arrhythmia, ... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Bradycardia, Persis... OMIM:618775
Beta-Ketothiolase Deficiency
Hepatomegaly, Weight loss, Hyperuricemia, Hyperammonemia ORPHA:134
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Premature birth, Neonatal death, Nonimmune hydrops fetalis OMIM:618835
Achondrogenesis, Type Ii
Edema, Hydrops fetalis, Stillbirth, Polyhydramnios OMIM:200610
Alstrom Syndrome
Dilated cardiomyopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Truncal obesity, H... OMIM:203800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Cardiomegaly, Polyhydramnios, Si... OMIM:616897
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Oligohydramnios, Overriding aor... OMIM:617022
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Small vessel vasculit... ORPHA:36412
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hyperuricosuria ORPHA:411543
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Nonimmune hydrops fetalis, Fetal akinesia sequence, Ascites, Polyhydramni... ORPHA:367
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating inosine concentration, Failure to thrive, Splenomegaly, Tremo... OMIM:613179
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Minicore Myopathy With External Ophthalmoplegia
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Hypokalemia, Failure to thrive, Hypophosphatemia OMIM:227810
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hyperuricemia OMIM:142625
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palmar telangiectasia, Palpebral edema, Predominantly lower limb lymph... OMIM:607823
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... ORPHA:95409
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hepatomegaly, Weight loss, Hyperuricemia, Hyperammonemia ORPHA:20
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Elevated circulating creatinine concentration OMIM:613095
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Failure to thrive, Weight loss, Hyperuricemia ORPHA:199299
Acute Interstitial Pneumonia
Hypertension, Peripheral edema, Pleural effusion, Pericardial effusion ORPHA:79126
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Congestive ... OMIM:230500
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Hematochezia OMIM:618183
Fructose Intolerance, Hereditary
Hepatomegaly, Transient aminoaciduria, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, H... OMIM:229600
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion OMIM:108050
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia ORPHA:469
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Hyperlipidemia, Hyperuricemia OMIM:232200
Trisomy 13
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus ORPHA:3378
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion OMIM:617822
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Gaisböck Syndrome
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Overweight,... ORPHA:90041
Hypomagnesemia 3, Renal
Hypomagnesemia, Failure to thrive, Hyperuricemia OMIM:248250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Hyperlipidemia, Hyperuricemia OMIM:232220
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Telangiectasia, Nonimmune hydrops fetalis, Abnormal heart morphology, Epistaxis, Cere... ORPHA:137667
Alg8-Cdg
Ascites, Premature birth, Edema, Oligohydramnios, Hydrops fetalis ORPHA:79325
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Edema, Raynaud phenomenon, Pleural effusion ORPHA:93552
Aicardi-Goutieres Syndrome 9
Hypertension, Pericarditis, Pericardial effusion, Ascites, Edema, Increased blood pressure, Left ... OMIM:619487
Primary Intestinal Lymphangiectasia
Pericardial effusion, Ascites, Edema, Pleural effusion, Generalized edema ORPHA:90362
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Gaucher Disease Type 1
Pericardial effusion, Ascites, Pulmonary arterial hypertension, Abnormal myocardium morphology, P... ORPHA:77259
Gaucher Disease Type 3
Pericardial effusion, Mitral valve calcification, Pulmonary arterial hypertension, Abnormal heart... ORPHA:77261
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Opisthotonus, Increased urinary taurine OMIM:615501
Gm1 Gangliosidosis
Ventricular septal defect, Abnormal heart morphology, Premature birth, Cardiomyopathy, Patent duc... ORPHA:354
Nephronophthisis 2
Hyperkalemia, Situs inversus totalis, Elevated circulating creatinine concentration, Enlarged kidney OMIM:602088
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Endocardial fibroelastosis, Patent ductus arteriosus, Po... ORPHA:99776
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Hyperuricemia, Increas... ORPHA:85138
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Abnormality of the amniotic fluid OMIM:212065
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Spontaneous abortion, Single umbilical artery, Increased placental thi... ORPHA:1865
Poems Syndrome
Pericardial effusion, Ascites, Edema, Pulmonary arterial hypertension, Pleural effusion ORPHA:2905
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis ORPHA:834
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Endocardial fibroelastosis, Cardiom... OMIM:212140
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema, Congestive heart failure, Sudden c... ORPHA:73224
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Achondrogenesis, Type Ia
Stillbirth, Hydrops fetalis, Polyhydramnios OMIM:200600
Trisomy 1Q
Ventricular septal defect, Patent ductus arteriosus, Polyhydramnios, Increased nuchal translucenc... ORPHA:261344
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Endocarditis, Abnormal heart valve morphology, V... ORPHA:781
Mgat2-Cdg
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Reflex asystolic ... ORPHA:79329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pericardial lymphangiectas... OMIM:235510
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Ascites, Premature birth, Neonatal death, Decreased fetal movement, Ca... OMIM:608013
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hyperlipidemia, Failure to thrive, Hyperuricemia, Hypercholesterolemia, Hypertrigly... ORPHA:79259
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Glycogen Storage Disease Ic
Hepatomegaly, Hyperlipidemia, Hyperuricemia OMIM:232240
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal heart mor... ORPHA:79328
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid OMIM:266200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia OMIM:619064
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Pleural effusion ORPHA:464329
Fibrochondrogenesis 1
Patent foramen ovale, Stillbirth, Hydrops fetalis OMIM:228520
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Galactosialidosis
Nonimmune hydrops fetalis, Conjunctival telangiectasia OMIM:256540
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Cardiomyopathy, Hydrops fetalis OMIM:253220
Diffuse Alveolar Hemorrhage
Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... ORPHA:411634
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... ORPHA:99827
Cockayne Syndrome
Hepatomegaly, Cachexia, Intention tremor, Hyperuricemia, Splenomegaly, Action tremor ORPHA:191
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Opisthotonus, Increased urinary taurine OMIM:252160
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrops fetalis, Polyhydramnios OMIM:616546
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Edema, Polyhydramnios, Hydrops fetalis OMIM:602522
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased HDL cholesterol concentration, Weight loss, Elevated circulating creatini... ORPHA:85450
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Pulm... OMIM:265380
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Hypokalemia, Weight loss, Hypophosphatemia, Hyperuricosu... ORPHA:3337
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal defect, A... ORPHA:97214
Greenberg Dysplasia
Nonimmune hydrops fetalis, Neonatal death, Cardiomegaly, Stillbirth, Polyhydramnios, Pleural effu... OMIM:215140
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Cardiomyopathy, Hydrops fetalis ORPHA:79255
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Gitelman Syndrome
Prominent U wave, Syncope, Maternal diabetes, Abnormal T-wave, Pericardial effusion, Prolonged QT... ORPHA:358
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia ORPHA:1187
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmonary arterial hypert... ORPHA:79282
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia ORPHA:760
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Sple... ORPHA:29073
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Elevated circulating creatinine... OMIM:617478
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemia ORPHA:93111
Hennekam Syndrome
Lymphedema, Pericardial effusion, Ascites, Hydrops fetalis, Chylothorax ORPHA:2136
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Cardiac amyloidosis, ... ORPHA:439232
Tsh-Secreting Pituitary Adenoma
Hypertension, Pericardial effusion, Ventricular arrhythmia, Palpitations, Congestive heart failur... ORPHA:91347
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Opisthotonus, Increased urinary taurine OMIM:252150
Farber Disease
Ascites, Joint swelling, Hydrops fetalis ORPHA:333
Oligomeganephronia
Elevated circulating creatinine concentration, Secundum atrial septal defect, Small for gestation... ORPHA:2260
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Hypertension, Myocardial calcification, Fetal distress, Pericardi... ORPHA:51608
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Hydrops fetalis OMIM:263520
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Patent ductus arteriosus ORPHA:1272
Chédiak-Higashi Syndrome
Edema, Epistaxis, Pleural effusion, Pericardial effusion ORPHA:167
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis ORPHA:268249
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion ORPHA:536532
Cranioectodermal Dysplasia 2
Hypertension, Patent ductus arteriosus, Polyhydramnios, Left ventricular hypertrophy, Atrial sept... OMIM:613610
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Ascites, Gastrointestinal hemorrhage, Chylothorax ORPHA:538
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy ORPHA:154
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:36234
Gaucher Disease
Mitral valve calcification, Pulmonary arterial hypertension, Abnormal heart valve morphology, Aor... ORPHA:355
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Small for gestational age, Ab... ORPHA:860
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Myhre Syndrome
Hypertension, Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Atrial s... OMIM:139210
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Cardiomyopathy ORPHA:247691
Pearson Syndrome
Corneal stromal edema, Cardiac conduction abnormality, Abnormal heart morphology, Cardiomyopathy,... ORPHA:699
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Hydrops fetalis, Polyhydramnios OMIM:300868
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-reactive prote... ORPHA:49041
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Mitral valve prolapse, Enlarged kidney ORPHA:730
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Yunis-Varon Syndrome
Hypertension, Ventricular septal defect, Renovascular hypertension, Pulmonary arterial hypertensi... ORPHA:3472
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exaggerated startle r... OMIM:253800
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Hydrops fetalis ORPHA:3261
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle response OMIM:268800
Igg4-Related Kidney Disease
Pericarditis, Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:449395
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dextrocardia, Hepatomegaly, Primum atrial septal defect, Ventricular septal defect, Failure to th... OMIM:619534
Blackfan-Diamond Anemia
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Nonimmune hydrops fet... ORPHA:124
Marburg Hemorrhagic Fever
Hyperamylasemia, Pericarditis, Hypokalemia, Elevated circulating creatine kinase concentration, E... ORPHA:99826
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Hydrops fetalis ORPHA:646
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Decreased body weight, Hyperphosphat... ORPHA:340
Hepatoerythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid ORPHA:95159
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Congenital Erythropoietic Porphyria
Edema, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid ORPHA:79277
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Tay-Sachs Disease
Tremor, Increased serum beta-hexosaminidase, Exaggerated startle response ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Yunis-Varon Syndrome
Ventricular septal defect, Premature birth, Pulmonary arterial hypertension, Cardiomyopathy, Poly... OMIM:216340
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Elevated circulating creatinine concentration, Elevated circulating C-reactive prote... ORPHA:91500
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Exaggerated startle response ORPHA:521426
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Pmm2-Cdg
Hypertrophic cardiomyopathy, Intracranial hemorrhage, Pericarditis, Pericardial effusion, Angina ... ORPHA:79318
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Exaggerated startle ... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Atrial septal defect, Exaggerated startle response OMIM:619522

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 Tpm1

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 Tpm1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Tpm1tm1aWtsi PMC6459510
Optimising experimental design for high-throughput phenotyping in mice: a case study. Mammalian genome : official journal of the International Mammalian Genome Society (August 2010) Tpm1tm1a(EUCOMM)Wtsi PMC2974211

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MGI Allele Allele Type Produced
Tpm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tpm1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tpm1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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