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Gene: Mymx MGI:3649059

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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:
myomixer, myoblast fusion factor
Synonyms:
minion,  myomerger

Order Alleles

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 Mymx 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 Mymx by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carey-Fineman-Ziter Syndrome 2
Axial muscle weakness, Abnormal skeletal muscle morphology, Scoliosis, Weakness of facial muscula... OMIM:619941
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... ORPHA:1358

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... ORPHA:98913
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Death in infancy, Facial palsy, Polyhydramnios, Fatty repl... OMIM:616165
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Perching Syndrome
Joint contracture, Cyanosis, Scoliosis, Camptodactyly OMIM:617055
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle f... OMIM:619042
Pyknoachondrogenesis
Stillbirth OMIM:265880
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Scoliosi... OMIM:613204
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Muscle weakness ORPHA:2901
Lethal Congenital Contracture Syndrome 8
Death in infancy, Polyhydramnios, Flexion contracture, Facial diplegia, Distal amyotrophy, Distal... OMIM:616287
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Short finger, Death in childhood OMIM:302000
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Poor head control, Nemaline bodies, Generalized muscle weakness, Increased vari... OMIM:620265
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Diaphragmatic paralysis, Hyperoxemia, Pulmonary sequestrat... ORPHA:70589
Asbestos Intoxication
Cyanosis, Edema, Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary ... ORPHA:2302
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopat... OMIM:300219
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis ORPHA:91130
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Short neck, Kyphosis, Prenatal death... OMIM:618393
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Bulbar palsy, Cyanosis, Poor head control, Kyphoscoliosis, Prox... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Bulbar palsy, Cyanosis, Poor head control, Kyphoscoliosis, Prox... ORPHA:98914
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... OMIM:610921
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cutaneous finger syndactyly, Ac... ORPHA:896
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Generalized muscle weakness, Pulmonary hypoplasia, Death in childhood, Neonatal... OMIM:614096
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Pulmonary hypoplasia, Neonatal dea... OMIM:253310
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Hypereosi... ORPHA:2902
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Atelectasis, Flexion contract... ORPHA:258
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Hypoxemia, Aspiration pne... ORPHA:70588
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Ground-glass opacification, Desquamative interstitial pneumonitis, Cl... OMIM:265120
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Death in childhood, Neonatal death, Increased variability in mu... OMIM:619334
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Pneumothorax, Pate... ORPHA:2257
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, Neonatal de... OMIM:619751
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Muscular edema, Acrocyanosis ORPHA:3165
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Edema, Pulmonary edema OMIM:267450
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Short neck, Knee flexion contracture, Bilatera... ORPHA:284417
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Respiratory tra... ORPHA:365
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Sandal gap, Progeroid facial appearance, M... OMIM:613177
Surfactant Metabolism Dysfunction, Pulmonary, 2
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick... OMIM:610913
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Congenital Heart Block
Cyanosis, Pericardial effusion, Hydrops fetalis, Peripheral edema, Intrauterine growth retardatio... ORPHA:60041
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Repeated pneumothoraces, Atele... ORPHA:536467
Farber Disease
Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Recurrent upp... ORPHA:333
Congenital Pulmonary Lymphangiectasia
Cyanosis, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty... OMIM:263000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary opacity, Pulmonary edema ORPHA:330012
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Clubbing, Intraalveolar phos... OMIM:610910
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, Short neck, Long finge... ORPHA:3309
Carey-Fineman-Ziter Syndrome 2
Axial muscle weakness, Abnormal skeletal muscle morphology, Scoliosis, Weakness of facial muscula... OMIM:619941
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis OMIM:207950
Breath-Holding Spells
Cyanosis OMIM:607578
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Short neck, Atelectasis, Short toe, Polyhydramnios, Short foot, Limb u... OMIM:269860
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneou... ORPHA:335
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Atelectasis, Scoliosis, Generalized abnormality o... ORPHA:2314
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Ground-glass opacification, Respiratory tract infection, Pleural thickening... ORPHA:60025
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Laryngeal Abductor Paralysis
Cyanosis, Talipes equinovarus OMIM:150260
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Muscle weakness ORPHA:159
Fucosidosis
Decreased muscle mass, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis, Vascular ski... ORPHA:349
Chronic Pneumonitis Of Infancy
Diffuse reticular or finely nodular infiltrations, Cyanosis, Hypoxemia, Ground-glass opacification ORPHA:91359
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger... OMIM:614407
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis, Dehydration OMIM:602199
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis, Ground-glass opacification ORPHA:1302
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Fatigable weakness of skeletal muscles, Ophthalmoplegia, Knee flexion contracture, Weak... OMIM:617239
Lujo Hemorrhagic Fever
Generalized edema, Facial edema, Atelectasis, Periorbital edema, Cerebral edema, Ecchymosis, Musc... ORPHA:319213
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Clubbing, Intraalveolar phospholipid accumulation, Hypoxemia ORPHA:747
Congenital Tricuspid Valve Dysplasia
Cyanosis, Pericardial effusion, Anomalous pulmonary venous return, Hypoxemia, Intrauterine growth... ORPHA:555874
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Short neck, Postaxial hand... OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pericardial effusion, Macroglossia, Myopathy, Anasarca, Peripheral edema, Pleural effus... OMIM:261740
Hsd10 Disease, Infantile Type
Poor head control, Cyanosis ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Poor head control, Cyanosis, Death in infancy, Ragged-red muscle fibers,... OMIM:252010
Poems Syndrome
Edema, Respiratory insufficiency due to muscle weakness, Metaphyseal sclerosis, Pericardial effus... ORPHA:2905
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Cyanosis, Abnormal... ORPHA:980
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Anomalous pulmonary venous return, Right ventricular hypertrophy ORPHA:860
Myasthenia Gravis
Myositis, Bulbar palsy, Ophthalmoparesis, Acrocyanosis, Muscle weakness ORPHA:589
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:620233
Buerger Disease
Acrocyanosis ORPHA:36258
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ede... ORPHA:221
Lymphangioleiomyomatosis
Recurrent respiratory infections, Lymphedema, Atelectasis, Pneumothorax, Chylopericardium, Pulmon... ORPHA:538
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Eosinophilia, Abnormal pleura mor... ORPHA:183
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Overlapping toe, Partial anomalous pulmonary venous return, Webbed ne... OMIM:617478
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Clubbing, Pedal edema ORPHA:439
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Cyanosis, Limb hypertonia OMIM:619580
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Pulmonary Arteriovenous Malformation
Cyanosis, Hemothorax, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage ORPHA:2038
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Cyanosis, 2-3 toe syndactyly, Clubbing of toes ORPHA:3304
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Short finger, Tapered finger ORPHA:1867
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Tarp Syndrome
Finger syndactyly, Cyanosis, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of proximal ra... ORPHA:2886
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Polydactyly ORPHA:137914
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Ophthalmoplegia, Cerebral edema, Pulmonary edema ORPHA:31826
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Clubbing of toes, Clubbing of fingers, Peripheral ede... ORPHA:99106
Zygomycosis
External ophthalmoplegia, Atelectasis, Periorbital edema, Pneumothorax, Pulmonary infiltrates, Ac... ORPHA:73263
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Aicardi-Goutieres Syndrome 1
Poor head control, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Atelectasis, Kyphosis, Dehydration, Genu valg... ORPHA:534
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
22Q11.2 Deletion Syndrome
Arachnodactyly, Polyhydramnios, Short neck, Atelectasis, Abnormal lung lobation, Hand polydactyly... ORPHA:567
Esophageal Atresia
Recurrent respiratory infections, Cyanosis, Bronchitis, Polyhydramnios, Pulmonary hypoplasia, Sco... ORPHA:1199
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Sepsis In Premature Infants
Cyanosis, Edema, Jaundice, Petechiae, Purpura ORPHA:90051
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Pleural effusion, Ascites OMIM:306400
Congenital Tracheomalacia
Cyanosis, Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Rec... ORPHA:95430
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Genu valgum ORPHA:488627
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Cyanosis, Right ventricular hypertrophy ORPHA:1329
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis ORPHA:3426
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood OMIM:618278
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Tracheal Stenosis
Cyanosis, Polyhydramnios, Fetal ascites, Abnormal lung morphology, Abnormal lung lobation, Pulmon... ORPHA:141127
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary infiltrates, P... OMIM:233450
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Scoliosis, Abnormal pleura morphology ORPHA:1764
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Pitt-Hopkins Syndrome
Tapered finger, Short neck, Broad fingertip, Short metatarsal, Small hand, Finger clinodactyly, S... ORPHA:2896
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis, Scoliosis OMIM:223900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Recurrent lower respiratory tract infections, Cyanosis, Death in childhood OMIM:618426
Relapsing Polychondritis
Atelectasis, Erythema, Purpura ORPHA:728
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lung, Cyanosis, Block vertebrae, Polyhydramnios, Bilateral talipes equinovarus... OMIM:306955
Chand Syndrome
Atelectasis, Short fifth metatarsal ORPHA:1401
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis, Pedal edema, Aortopulmonary window ORPHA:2299
Eisenmenger Syndrome
Cyanosis, Clubbing, Pedal edema, Aortopulmonary window, Hypoxemia, Peripheral edema, Ascites, Mus... ORPHA:97214
Unilateral Polymicrogyria
Poor head control, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Joint swelling, Blepharo... ORPHA:287
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... OMIM:187300
Criss-Cross Heart
Cyanosis ORPHA:1461
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Scoliosis, Prolonged neonatal jaundice, A... ORPHA:51
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema ORPHA:137675
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia, Pedal edema ORPHA:99103
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Recurrent upper respiratory tract infections, Scoliosis, Recurrent lower respiratory tr... ORPHA:293987
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... OMIM:600376
Generalized Arterial Calcification Of Infancy
Cyanosis, Edema, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Myocardial calcification,... ORPHA:51608
Digeorge Syndrome
Atelectasis, Recurrent pneumonia, Scoliosis, Recurrent sinusitis, Intervertebral disc degeneration OMIM:188400
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis, Hydrops fetalis, Edema OMIM:212093
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... OMIM:610655
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Thin skin, Scoliosis, Acrocyanosis, Tendon ... ORPHA:285
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Cutis marmorata, Tapered finger, Coxa ... OMIM:303600
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Coxa valga, Osteolytic defects of the distal phala... ORPHA:740
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... ORPHA:48435
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... ORPHA:1358
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... ORPHA:99125

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 Mymx

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 Mymx.

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

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MGI Allele Allele Type Produced
Mymxtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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