Gene Summary

Name:
myosin XVIIIb
Synonyms:
4933411E19Rik,  4932408L24Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Myo18bem2(IMPC)Ics HOM   Early adult 0.00
increased circulating triglyceride level Myo18bem2(IMPC)Ics HET Early adult 4.57×10-06
abnormal auditory brainstem response Myo18bem2(IMPC)Ics HET   Early adult 4.31×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Myo18b 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 Myo18b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Nemaline bodies, Cardiomyopathy, Flexion contracture OMIM:616549

The table below shows human diseases predicted to be associated to Myo18b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... OMIM:144300
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion, Retinal arteriolar tortuosity OMIM:260900
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Vent... OMIM:115197
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... ORPHA:2414
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating creatine kinase conc... OMIM:610717
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... ORPHA:199241
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Pate... ORPHA:90308
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, S... ORPHA:75249
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... OMIM:614954
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Persistent left superior vena cava, Hype... OMIM:618775
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Complete heart block with narrow QRS complexes, Tricuspid regurgitation... ORPHA:1677
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Ascites, Pericardial effusion, Edema OMIM:608776
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Congenital Enterovirus Infection
Abnormal bleeding, Hydrops fetalis, Hypotension, Myocarditis, Polyhydramnios, Pericardial effusio... ORPHA:292
Cirrhotic Cardiomyopathy
Right atrial enlargement, Pulmonary edema, Abnormal bleeding, Third heart sound, Left ventricular... ORPHA:57777
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Low-frequency sensorineural h... OMIM:613101
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Tachycardia, Arrhythmia, Exercise-induced rhabdomyolysis, Ventricular septa... ORPHA:26793
Hypocomplementemic Urticarial Vasculitis
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion, Sma... ORPHA:36412
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Vascular dilatation, Pleural effusion, Hypertension, Pericardia... OMIM:108050
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Temple Syndrome
Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia OMIM:616222
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... ORPHA:99104
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Kaposiform Lymphangiomatosis
Bruising susceptibility, Abnormal bleeding, Epidural hemorrhage, Abnormal lymphatic vessel morpho... ORPHA:464329
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... OMIM:618620
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Edema, Intestinal lymphangiectasia, Generalized edema, Pleu... ORPHA:90362
Gaucher Disease Type 1
Bruising susceptibility, Gingival bleeding, Pedal edema, Abnormal myocardium morphology, Pulmonar... ORPHA:77259
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Abnormality of central somatosensory evoked potentials, ... OMIM:277460
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... OMIM:126320
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Left ventricular hypertrophy, Increased blood pressure, Edema, Portal hype... OMIM:619487
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... ORPHA:99103
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Smith-Magenis Syndrome
EEG abnormality, Morphological abnormality of the middle ear, Hypertriglyceridemia, Hypercholeste... OMIM:182290
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Joint contracture of the hand, Pleural lymphangiectasia, Camptodactyly, Ven... OMIM:235510
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Acute Interstitial Pneumonia
Hypertension, Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Glycerol Kinase Deficiency
Hypertriglyceridemia, Low-set ears OMIM:307030
Q Fever
Abnormal left ventricular function, Endocarditis, Vasculitis, Myocarditis, Purpura, Pleural effus... ORPHA:781
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Myositis, Pleural effusion, Edema, Ascites, Pericardial effusion ORPHA:93552
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Pericardial effusion, Edema, Camptodactyly OMIM:617822
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Nonimmune hydrops fetalis, Stroke-like episode, Pericardial effusion, Cardio... OMIM:212065
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia OMIM:603471
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... ORPHA:391665
Poems Syndrome
Pleural effusion, Edema, Pulmonary arterial hypertension, Pericardial effusion, Ascites ORPHA:2905
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Bruising susceptibility, Mitral valve prolapse, Aortic root aneurysm, C... ORPHA:536532
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased ci... OMIM:615947
Gaucher Disease Type 3
Aortic valve calcification, Hydrops fetalis, Mitral valve calcification, Abnormal myocardium morp... ORPHA:77261
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Generalized Arterial Calcification Of Infancy
Stroke, Medial calcification of medium-sized arteries, Aortic dissection, Ventricular hypertrophy... ORPHA:51608
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Alg9-Cdg
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Tricuspid regurgitation, Hydrop... ORPHA:79328
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Sensorineural hearing impairment, Hypertriglyceridemia OMIM:615381
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158057
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Aicardi-Goutieres Syndrome 7
Hematemesis, Oligohydramnios, Limb hypertonia, Vasculitis, Hematochezia, Edema, Hypertension, Hyp... OMIM:615846
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive h... ORPHA:73224
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:435660
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Left ventricular non... OMIM:619167
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Smith-Magenis Syndrome
Hypertriglyceridemia, Conductive hearing impairment, EEG abnormality, Hypercholesterolemia ORPHA:819
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia ORPHA:66628
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Syncope, Rhabdomyolysis... ORPHA:358
Chédiak-Higashi Syndrome
Bruising susceptibility, Abnormal bleeding, Gingival bleeding, Edema, Pleural effusion, Epistaxis... ORPHA:167
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia ORPHA:179494
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Pulmonary lymphangiectasia, Camptodactyly of finger, Hyd... ORPHA:2136
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Patent ductus arteriosus, Pericarditis, Pericardi... ORPHA:1272
Myhre Syndrome
Generalized muscle hypertrophy, Aortic valve stenosis, Atrial septal defect, Skeletal muscle hype... OMIM:139210
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... OMIM:616028
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Lymphedema, Pulmonary lymphangiomyoma... ORPHA:538
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158061
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98855
Familial Hemophagocytic Lymphohistiocytosis
Sensorineural hearing impairment, Increased circulating ferritin concentration, Hypoalbuminemia, ... ORPHA:540
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... ORPHA:261
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Neutral Lipid Storage Disease With Ichthyosis
Sensorineural hearing impairment, Hypertriglyceridemia, Small earlobe, Abnormal circulating creat... ORPHA:98907
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Progressive sensori... OMIM:203800
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Per... ORPHA:91347
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Microtriplication 11Q24.1
Hearing impairment, Hyperlipidemia, Posteriorly rotated ears, Attached earlobe ORPHA:289522
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... ORPHA:70591
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co... OMIM:615980
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
EEG with spike-wave complexes, Hearing impairment, Hypertriglyceridemia, EEG with generalized sha... ORPHA:369837
Visceral Steatosis, Congenital
Abnormal bleeding, Myocardial steatosis, Neonatal death OMIM:228100
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Increased circulating chylomicron concentration, Hyperlipidemia ORPHA:444490
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Flexion contracture, Mitral regurgitation, Left atrial enlargement, Pro... OMIM:614008
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:613327
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion OMIM:181000
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
H Syndrome
Hypertriglyceridemia, Hearing impairment ORPHA:168569
Tangier Disease
Facial diplegia, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Increased blood urea nitrogen, Optic atrophy, Macrotia, Abno... ORPHA:90321
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Pulmonary edema, Hematemesis, Intracranial hemorrhage, Tachycardia, Palpitatio... ORPHA:340
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Intracrania... ORPHA:906
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Internal hemorrhage, Pleural effusion, General... ORPHA:244242
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Profound hearing impairment, Bilateral sensorineural hearing impairment OMIM:619418
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-c... ORPHA:401973
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic at... ORPHA:909
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Neutral Lipid Storage Myopathy
Sensorineural hearing impairment, Hypertriglyceridemia, Abnormal circulating creatine kinase conc... ORPHA:98908
Superficial Siderosis
Arteriovenous malformation, Persistent bleeding after trauma, Abnormal bleeding, Abnormal vertebr... ORPHA:247245
Marburg Hemorrhagic Fever
Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... ORPHA:99826
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Increased LDL cholesterol concentration, Abnormal circulating lipid concentration... ORPHA:77293
Alagille Syndrome 1
Hypertriglyceridemia, Low-set ears, Hypercholesterolemia, Macrotia OMIM:118450
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Macrotia OMIM:269700
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Tinnitus, Hypertriglyceridemia, Hypercholesterolemia, Low-set ears OMIM:606721
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration OMIM:619573
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... OMIM:256040
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Macrotia OMIM:608594
Hepatocellular Carcinoma
Budd-Chiari syndrome, Hypotension, Pedal edema, Anasarca, Internal hemorrhage, Portal hypertensio... ORPHA:88673
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Pmm2-Cdg
Angina pectoris, Multiple joint contractures, Intracranial hemorrhage, Lymphedema, Anasarca, Peri... ORPHA:79318
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... ORPHA:157
Wiedemann-Rautenstrauch Syndrome
Absent earlobe, Small earlobe, Hypertriglyceridemia, Low-set ears, Posteriorly rotated ears OMIM:264090
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arter... ORPHA:286
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... ORPHA:228308
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperaldosteronism, H... ORPHA:189427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Absent earlobe, Optic atrophy, Hypertriglyceridemia, Low-set ears, Posteriorly rotated ears ORPHA:3455
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Internal hemorrhage, Aortic aneurysm, Pulmonary lymphangiomyomatosis, Hypert... ORPHA:805
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleed... ORPHA:99829
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hearing impairment, Hyperlipidemia ORPHA:90153
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia ORPHA:567983
Glycogen Storage Disease Ia
Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232200
Triglyceride Deposit Cardiomyovasculopathy
Sensorineural hearing impairment, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Glycogen Storage Disease Ic
Hyperlipidemia, Hyperuricemia, Xanthelasma OMIM:232240
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Protruding ear, Hyperlipidemia OMIM:241080
Woodhouse-Sakati Syndrome
Protruding ear, Hyperlipidemia, Bilateral sensorineural hearing impairment ORPHA:3464
Alström Syndrome
Hyperlipidemia, Thickened ears, Optic disc pallor, Hypertriglyceridemia, Severe sensorineural hea... ORPHA:64
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Nemaline bodies, Cardiomyopathy, Flexion contracture OMIM:616549

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 Myo18b

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 Myo18b.

No publications found that use IMPC mice or data for Myo18b.

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MGI Allele Allele Type Produced
Myo18btm456714(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Myo18bem2(IMPC)Ics Deletion Mice

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