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Gene: Mrtfa MGI:2384495

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myocardin related transcription factor A
Synonyms:
Mkl1,  Bsac,  Mal,  MRTF-A

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IMPC Data Collections

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

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.

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
phenotypes		 Matching phenotypes Source
Immunodeficiency 66
OMIM:618847

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... OMIM:300257
Hsd10 Mitochondrial Disease
Choreoathetosis, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Exocrine pancreatic insufficiency OMIM:260400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Breast hypoplasia, Hypohidrosis OMIM:129550
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Decreased mitochondrial number ORPHA:352470
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial palsy, Tremor, Myo... OMIM:619424
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, Endocardial fibroel... OMIM:302060
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Facial palsy, Cerebral edema ORPHA:68
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... ORPHA:352447
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Decreased activity of mitochondr... OMIM:615578
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Abnormal mitochondrial shape, Patent ductus arteriosus, Flexion contract... ORPHA:17
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... OMIM:619313
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber dia... ORPHA:397744
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Patent foramen ovale, Dystrophic toenail, Right vent... OMIM:616028
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... ORPHA:99095
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Right atrial enlargement, Peripheral edema, Interstitial cardiac fibrosi... ORPHA:75249
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement OMIM:612422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin... OMIM:618250
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram... ORPHA:439
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... OMIM:619518
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cardiomegaly, Right atrial enlargement, Peripheral edema, Left ventricul... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement OMIM:617047
Dystonia-Aphonia Syndrome
Oromandibular dystonia, Macroglossia, Generalized dystonia, Abnormal mitochondrial shape ORPHA:412217
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse ORPHA:555877
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Sparse eyebrow, Flexion c... OMIM:614008
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right ventricular dilatation, Peripheral edema, Left ventricular hypertr... ORPHA:99106
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pleural effusion, Right atrial enlargement, Mitral valve prolapse OMIM:620233
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Mitochondrial swelling, Polyhydramnios OMIM:606812
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Right atrial enlargement, Peripheral edema, Pleural effusion, Atrial septal dilatat... ORPHA:1677
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Atrial Septal Defect, Coronary Sinus Type
Right ventricular dilatation, Anomalous pulmonary venous return, Unroofed coronary sinus, Right a... ORPHA:99104
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Atrial Septal Defect, Ostium Secundum Type
Right ventricular dilatation, Abnormal mitral valve morphology, Pedal edema, Right atrial enlarge... ORPHA:99103
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Edema, Right atrial enlargement ORPHA:70591
Immunodeficiency 66
OMIM:618847

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 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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