Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

myocardin related transcription factor A
Mal,  Bsac,  MRTF-A,  Mkl1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

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

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 66

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

Disease Similarity of
Matching phenotypes Source
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Generalized amyotrophy, Cardiomegaly, Dilated ... OMIM:300257
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Hypertrophic c... OMIM:618378
Barth Syndrome
Endocardial fibroelastosis, Skeletal myopathy, Abnormal mitochondrial morphology, Dilated cardiom... OMIM:302060
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Myocardial necrosis OMIM:260400
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Hypertrophic cardiomyopathy OMIM:300438
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Hypohidrosis, Breast hypoplasia OMIM:129550
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Limb-girdle muscle weakness, Multiple joint contractures, Decreased mitochondrial number ORPHA:352470
Spastic Paraplegia Type 7
Lower limb hypertonia, Lower limb muscle weakness, Abnormal mitochondrial morphology, Ragged-red ... ORPHA:99013
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers, Weakness of f... ORPHA:352447
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Ventricular hypertrophy, Decreased muscle mass, Cardiomyocyte hyper... ORPHA:263297
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Cerebral edema, Myocardial necrosis ORPHA:68
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Decreased activity of mitochondrial complex III, Fiber type grouping,... OMIM:500013
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Salih Myopathy
Mitochondrial depletion, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial ... OMIM:611705
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex III, Flexi... ORPHA:17
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Tremor, Lower limb muscle weakness, Mitochondrial swelling, Myopath... ORPHA:397744
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Hypoplasia of the t... OMIM:619313
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Tremor, Abnormality of mitochondrial metabolism, Abnormal mitral valve morphology ORPHA:1192
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Dystrophic toenail, P... OMIM:616028
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Tremor, Skeletal muscle atrophy ORPHA:330050
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Left atrial enlargement, Right atrial enlargement, Pulmonary edema, Interstitia... ORPHA:75249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Tremor, Goiter, Hypomimic face, Ragged-red muscle fibers, Hypothyro... ORPHA:254892
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Tetralogy of Fallot, Head titubation, Abnormality of mitochondrial metabolism ORPHA:88639
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita, Edema OMIM:615330
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Palpebral edema, Abnormal heart morphology, Abnormality of the mitochondrion, Cam... OMIM:214110
Atrial Septal Defect, Ostium Primum Type
Peripheral edema, Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy... ORPHA:99106
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, Abnormality of the mitochondrion, ... ORPHA:298
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Hsd10 Disease, Infantile Type
Abnormality of mitochondrial metabolism, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, Tremor, Oligohydramnios, Intention tremor, Abnormality of mitochondrial metabolis... OMIM:614052
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Anomalous pulmonary venous return, Right ventricular dilatation, Unroof... ORPHA:99104
Reticular Dysgenesis
Dehydration, Abnormality of mitochondrial metabolism ORPHA:33355
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Pedal edema, Right ventricular dilata... ORPHA:99103
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Edema, Right ventricular dilatation ORPHA:70591
Abnormality of the mitochondrion, Cholelithiasis ORPHA:3166
Cowden syndrome 3
Abnormality of mitochondrial metabolism OMIM:615106
Manganese Poisoning
Postural tremor, Abnormality of mitochondrial metabolism ORPHA:306682
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Head tremor, Abnormality of mitochondrial metabolism, Resting tremor, Predominantly lower limb ly... ORPHA:314404
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of mitochondrial metabolism, Bile duct proliferation OMIM:203700
Immunodeficiency 66


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 Mrtfa

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 Mrtfa.

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

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MGI Allele Allele Type Produced
Mrtfatm85154(L1L2_Pgk_P) Targeting vectors

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