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
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719

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

Disease Similarity of
Matching phenotypes Source
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
Myopathy, Abnormality of the urinary system, Megacystis ORPHA:977
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Megacystis, Polyuria OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Megacystis, Polyuria OMIM:304800
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... ORPHA:60041
Familial Visceral Myopathy
Hydroureter, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Megac... ORPHA:2604
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... OMIM:614702
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Visceral Myopathy 2
Megacystis OMIM:619350
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Lymphedema, Pericardial effusion, Patent ductus arteriosus, ... OMIM:239850
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... OMIM:620070
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion OMIM:613885
Brain-Lung-Thyroid Syndrome
Vesicoureteral reflux, Hypospadias, Megacystis ORPHA:209905
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites ORPHA:36412
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, I... OMIM:619487
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... OMIM:618775
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion OMIM:617822
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong... OMIM:618280
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Growth delay, Delayed puberty, Abnormal myocardium morphology,... ORPHA:77259
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy ORPHA:300751
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom... ORPHA:26793
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... OMIM:212065
Aymé-Gripp Syndrome
Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro... ORPHA:1272
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, General... OMIM:139210
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Aortic root aneurysm, Umbil... ORPHA:536532
Poems Syndrome
Pericardial effusion, Pleural effusion, Ascites, Edema ORPHA:2905
Torticollis, Ventricular septal defect, Rhizomelia, Hypoplasia of the musculature, Pericardial ef... ORPHA:79328
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Congenital diaphragmatic hernia OMIM:219100
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites OMIM:618183
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema ORPHA:199241
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... ORPHA:781
Hennekam Syndrome
Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Hyd... ORPHA:2136
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Limb hypertonia, Intrauterine growth retardation, Hypertrophic cardi... OMIM:615846
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion ORPHA:464329
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Polyhydramnios, Edema, Pericardi... ORPHA:51608
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum ORPHA:2976
Acro-Renal-Ocular Syndrome
Renal malrotation, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureter... ORPHA:959
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum, Myopathy, Skeletal muscle atrophy, Type 1 muscle fiber predominance OMIM:614557
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema ORPHA:73224
Gitelman Syndrome
Pericardial effusion, Rhabdomyolysis, Delayed puberty ORPHA:358
Ascites, Chylothorax, Chylopericardium, Lymphedema ORPHA:538
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Multiple bladder diverticula,... OMIM:613177
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
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum, Multiple bladder diver... ORPHA:90349
Menkes Disease
Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:565
Crimean-Congo Hemorrhagic Fever
Pericardial effusion, Myocarditis, Ascites ORPHA:99827
Kyphoscoliotic Ehlers-Danlos Syndrome
Bladder diverticulum, Myopathy, Skeletal muscle atrophy ORPHA:536545
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Diastasis recti, Dilatation of the renal pelvis, Dilatation of the blad... OMIM:265380
Williams Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr... ORPHA:904
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Abnormal renal morphology, Urethral sten... OMIM:194050
Occipital Horn Syndrome
Bladder diverticulum, Recurrent urinary tract infections ORPHA:198
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Patent urachus OMIM:618252
Classical Ehlers-Danlos Syndrome
Bladder diverticulum ORPHA:287
Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Anasarca, Hypertroph... ORPHA:79318
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cystocele, Aplasia/Hypoplasia of the abdominal wall musculature, Renovascular hypert... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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