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
Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys, Multiple glomerular cysts 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
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Fetal pyelectasis, Recurrent urinary tract infections, Nephrolithiasis, Megacystis OMIM:619365
Atresia Of Urethra
Dilatation of the bladder, Hydronephrosis, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Myopathy, Abnormality of the urinary system, Megacystis ORPHA:977
Bladder Diverticulum
Solitary bladder diverticulum, Hematuria, Dysuria, Urethral sphincter sclerosis, Urinary hesitanc... OMIM:109820
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis OMIM:304800
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Familial Visceral Myopathy
Megacystis, Aplasia/Hypoplasia of the abdominal wall musculature, Hydroureter, Camptodactyly of f... ORPHA:2604
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Visceral Myopathy 2
Megacystis OMIM:619350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Hyperechogenic kidneys, Multiple glomerular cysts OMIM:618719
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Visceral Myopathy 1
Hydronephrosis, Urinary retention, Vesicoureteral reflux, Megacystis OMIM:155310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis OMIM:619351
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Myopathy, Ascites, Ventricular hyper... OMIM:115197
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Hydrops Fetalis
Nonimmune hydrops fetalis, Pleural effusion, Abnormal heart morphology, Lymphedema, Polyhydramnio... ORPHA:1041
Brain-Lung-Thyroid Syndrome
Vesicoureteral reflux, Hypospadias, Megacystis ORPHA:209905
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Atrial septal defect, Coarctation of a... ORPHA:363705
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal agenesis, Bladder diverticulum, Micropenis, Hydronephrosis, Urethral stenosis, Ureterocele,... OMIM:604292
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Edema, Pericardial effusion, Ascites OMIM:608776
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Bladder diverticulum OMIM:223330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Mild postnatal growth retardation, Pleural effusion, Lymphedema, Periorbita... OMIM:235510
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Pleural effusion, Polyhydramnios, Cardiomyopathy, Fetal ascites, Pe... ORPHA:292
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Ascites, Pericardial effusion ORPHA:36412
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Intrauterine growth retardation, Ascites, Lower limb hypertonia, Pe... OMIM:619487
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular s... OMIM:618775
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Alkuraya-Kucinskas Syndrome
Camptodactyly, Edema, Pericardial effusion, Arthrogryposis multiplex congenita OMIM:617822
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Primary Intestinal Lymphangiectasia
Pleural effusion, Growth delay, Ascites, Edema, Generalized edema, Pericardial effusion ORPHA:90362
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Edema, Pericardial effusion ORPHA:93552
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy, Pericardial effusion ORPHA:300751
Gaucher Disease Type 1
Abnormal myocardium morphology, Growth delay, Pedal edema, Ascites, Delayed puberty, Pericardial ... ORPHA:77259
Acute Interstitial Pneumonia
Pleural effusion, Peripheral edema, Pericardial effusion ORPHA:79126
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Ex... ORPHA:26793
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Aymé-Gripp Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Short stature, Pericarditis, Postnatal... ORPHA:1272
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Carotid artery stenosis, Umbilical hernia, Mitral valve prolapse, Pericardi... ORPHA:536532
Myhre Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Generalized muscle hypertrophy, Atrial... OMIM:139210
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Cardiomyopathy, Pericardial effusion, Flexion contracture OMIM:212065
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Congenital diaphragmatic hernia OMIM:219100
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Growth delay, M... ORPHA:77261
Poems Syndrome
Edema, Pleural effusion, Pericardial effusion, Ascites ORPHA:2905
Right ventricular dilatation, Rhizomelia, Hydrops fetalis, Atrial septal defect, Hypoplasia of th... ORPHA:79328
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pleural effusion, Pericardial effusion, Pulmonary edema ORPHA:199241
Q Fever
Abnormal heart valve morphology, Myocarditis, Pleural effusion, Endocarditis, Pericarditis, Peric... ORPHA:781
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum, Myopathy, Skeletal muscle atrophy OMIM:614557
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria ORPHA:2728
Hennekam Syndrome
Chylothorax, Hydrops fetalis, Mild postnatal growth retardation, Lymphedema, Ascites, Camptodacty... ORPHA:2136
Kaposiform Lymphangiomatosis
Pleural effusion, Pericardial effusion ORPHA:464329
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Chédiak-Higashi Syndrome
Edema, Pleural effusion, Pericardial effusion ORPHA:167
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion OMIM:108050
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Myocardial calcification, Medial calcification of medium-... ORPHA:51608
Acro-Renal-Ocular Syndrome
Bladder diverticulum, Horseshoe kidney, Renal malrotation, Crossed fused renal ectopia, Renal hyp... ORPHA:959
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Bladder diverticulum OMIM:613177
Kidney Tubulopathy-Dilated 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
Urethral diverticulum, Pyelonephritis, Recurrent urinary tract infections, Vesicoureteral reflux,... ORPHA:90349
Chylopericardium, Chylothorax, Lymphedema, Ascites ORPHA:538
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Bladder diverticulum, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio OMIM:225400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal agenesis, Bladder diverticulum, Micropenis, Hydronephrosis, Ureterocele, Renal dysplasia, D... OMIM:129900
Menkes Disease
Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:565
Kyphoscoliotic Ehlers-Danlos Syndrome
Bladder diverticulum, Myopathy, Skeletal muscle atrophy ORPHA:536545
Crimean-Congo Hemorrhagic Fever
Myocarditis, Pericardial effusion, Ascites ORPHA:99827
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pericardial effusion OMIM:181000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Right ventricular hypertrophy, Diastasis recti, Dilatation of the bladder, Hydronephrosis, Dilata... OMIM:265380
Williams Syndrome
Nephrocalcinosis, Bladder diverticulum, Nephrolithiasis, Renal duplication, Proteinuria, Hypercal... ORPHA:904
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum ORPHA:90348
Williams-Beuren Syndrome
Nephrocalcinosis, Bladder diverticulum, Flexion contracture, Hypercalciuria, Micropenis, Renal hy... OMIM:194050
Occipital Horn Syndrome
Bladder diverticulum, Recurrent urinary tract infections ORPHA:198
Classical Ehlers-Danlos Syndrome
Bladder diverticulum ORPHA:287
Anasarca, Multiple joint contractures, Hypertrophic cardiomyopathy, Lymphedema, Pericarditis, Per... ORPHA:79318
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Renovascular hypertension, Aplasia/Hypoplasia of the abdominal wall muscula... 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
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
Myocdtm309(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Myocdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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