Not currently registered for phenotyping at IMPC

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

Gene Summary


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 Myocd 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 Myocd by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:618719

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

Disease Similarity of
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Fetal pyelectasis, Megacystis, Recurrent urinary tract infections, Nephrolithiasis OMIM:619365
Myopathy, Megacystis, Abnormality of the urinary system ORPHA:977
Bladder Diverticulum
Dysuria, Urethral sphincter sclerosis, Hematuria, Urinary hesitancy, Recurrent urinary tract infe... OMIM:109820
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Megacystis, Polyuria OMIM:304800
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Familial Visceral Myopathy
Camptodactyly of finger, Megacystis, Hydroureter, Vesicoureteral reflux, Aplasia/Hypoplasia of th... ORPHA:2604
Pericardial effusion, Ascites OMIM:256150
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Visceral Myopathy 2
Megacystis OMIM:619350
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Cantu Syndrome
Lymphedema, Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertro... OMIM:239850
Megabladder, Congenital
Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:618719
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Multicystic kidney dysplasia, Hydroureter ORPHA:2241
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Visceral Myopathy 1
Vesicoureteral reflux, Megacystis, Urinary retention, Hydronephrosis OMIM:155310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Anuria, Fetal megacystis OMIM:619351
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Cardiomegaly, Ventricular septal hypertrophy, Pulm... OMIM:115197
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Brain-Lung-Thyroid Syndrome
Hypospadias, Vesicoureteral reflux, Megacystis ORPHA:209905
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
Hydrops Fetalis
Polyhydramnios, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial effusion, As... ORPHA:1041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Megacystis, Hydroureter, Duplicated collecting system, Bladder diverticulum, Urethral stenosis, R... OMIM:604292
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Ascites OMIM:608776
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum OMIM:223330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Lymphedema, Pleural effusion, Camptodactyly, Per... OMIM:235510
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal ascites, Myocardit... ORPHA:292
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Ascites, Angioedema ORPHA:36412
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Pericardial effusion, Ventricular septal defect, Hypertrophic ca... OMIM:618775
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Alkuraya-Kucinskas Syndrome
Camptodactyly, Arthrogryposis multiplex congenita, Edema, Pericardial effusion OMIM:617822
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Pericardial effusion, Edema, Ascites, Myositis ORPHA:93552
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Muscular dystrophy, Abnormal myocardium morphology, Pericardial effusion ORPHA:300751
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Gaucher Disease Type 1
Pericardial effusion, Growth delay, Pedal edema, Delayed puberty, Ascites, Abnormal myocardium mo... ORPHA:77259
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Ex... ORPHA:26793
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Peripheral edema ORPHA:79126
Aymé-Gripp Syndrome
Pericarditis, Camptodactyly, Pericardial effusion, Patent ductus arteriosus, Postnatal growth ret... ORPHA:1272
Myhre Syndrome
Atrial septal defect, Ventricular septal defect, Skeletal muscle hypertrophy, Camptodactyly, Peri... OMIM:139210
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Carotid artery stenosis, Aortic root aneurysm, Mitral val... ORPHA:536532
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Bladder diverticulum OMIM:219100
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Poems Syndrome
Pleural effusion, Pericardial effusion, Edema, Ascites ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:212065
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Pulmonary Capillary Hemangiomatosis
Pleural effusion, Pericardial effusion, Pedal edema, Pulmonary edema ORPHA:199241
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Pleural effusion, Pericardial effusion, Ascites OMIM:618183
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Myopathy, Skeletal muscle atrophy, Bladder diverticulum OMIM:614557
Q Fever
Endocarditis, Pericarditis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusi... ORPHA:781
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Hennekam Syndrome
Camptodactyly of finger, Hydrops fetalis, Lymphedema, Pericardial effusion, Mild postnatal growth... ORPHA:2136
Kaposiform Lymphangiomatosis
Pleural effusion, Pericardial effusion ORPHA:464329
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion OMIM:108050
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Penile hypospadias, Bladder duplication, Rectourethral fist... ORPHA:237
Chédiak-Higashi Syndrome
Pleural effusion, Pericardial effusion, Edema ORPHA:167
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Calcification of the aorta, Ventricular hypertrophy, Hydrops fetalis, Medial calc... ORPHA:51608
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Bladder diverticulum OMIM:613177
Acro-Renal-Ocular Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Renal malrotation, Bladder diverticulum, Vesicoure... ORPHA:959
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Pulmonary edema ORPHA:73224
Gitelman Syndrome
Delayed puberty, Rhabdomyolysis, Pericardial effusion ORPHA:358
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pericardial effusion ORPHA:91347
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent urinary tract infections, Multiple bladder diverticula, Vesicoureteral ... ORPHA:90349
Lymphedema, Chylopericardium, Ascites, Chylothorax ORPHA:538
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum OMIM:304150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Bladder diverticulum OMIM:225400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Bladder diverticulum, Renal dysplasia, Vesicoureteral ... OMIM:129900
Menkes Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Bladder diverticulum ORPHA:565
Kyphoscoliotic Ehlers-Danlos Syndrome
Myopathy, Skeletal muscle atrophy, Bladder diverticulum ORPHA:536545
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pericardial effusion OMIM:181000
Williams Syndrome
Macroglossia, Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinar... ORPHA:904
Occipital Horn Syndrome
Recurrent urinary tract infections, Bladder diverticulum ORPHA:198
Williams-Beuren Syndrome
Abnormal renal morphology, Renal hypoplasia, Flexion contracture, Recurrent urinary tract infecti... OMIM:194050
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Hydroureter, Neonatal death, Right ventricular hypertrophy, Hydronephrosis, Dila... OMIM:265380
Classical Ehlers-Danlos Syndrome
Bladder diverticulum ORPHA:287
Anasarca, Pericarditis, Lymphedema, Pericardial effusion, Multiple joint contractures, Hypertroph... ORPHA:79318
Vascular Ehlers-Danlos Syndrome
Renovascular hypertension, Bladder diverticulum, Cystocele, Hypospadias, Aplasia/Hypoplasia of th... ORPHA:286


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 Myocd

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 Myocd.

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

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MGI Allele Allele Type Produced
Myocdtm309(L1L2_gt1) Targeting vectors
Myocdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myocdtm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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