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Gene: Mib1 MGI:2443157

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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:
MIB E3 ubiquitin protein ligase 1
Synonyms:
mindbomb,  mind bomb-1,  skeletrophin,  E430019M12Rik,  Mib

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 Mib1 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 Mib1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092

The table below shows human diseases predicted to be associated to Mib1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morpholog... ORPHA:1131
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology, Dextrotransposition of the great ar... ORPHA:860
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous... ORPHA:1120
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Anemia ORPHA:3405
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation, Pulmonary artery stenosis ORPHA:435938
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... ORPHA:99050
Transaldolase Deficiency
Coarctation of aorta, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Heterotaxy, Visceral, 4, Autosomal
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... OMIM:613751
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double... OMIM:618164
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... ORPHA:261330
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Leukopenia, Lymphopenia, Coarctation of aorta OMIM:620210
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... OMIM:313850
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:261337
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Bor Syndrome
Branchial cyst ORPHA:107
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Dehydration ORPHA:2260
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Descending aorta hypoplasia, ... ORPHA:185
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Diabetic Embryopathy
Abnormality of the pulmonary artery, Tetralogy of Fallot, Transposition of the great arteries, Ab... ORPHA:1926
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... ORPHA:508488
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia, Thrombocytopenia OMIM:614857
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Right Atrial Isomerism
Aortopulmonary collateral arteries, Asplenia, Total anomalous pulmonary venous return, Transposit... OMIM:208530
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Coarctation of ... OMIM:606003
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... OMIM:600001
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Pulmonary artery hyp... ORPHA:3384
Holt-Oram Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return ORPHA:392
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Meacham Syndrome
Accessory spleen, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctatio... OMIM:608978
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Double Outlet Right Ventricle
Double outlet right ventricle, Coarctation of aorta, Pulmonary artery atresia, Truncus arteriosus... ORPHA:3426
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Transposition of... ORPHA:251071
Loeys-Dietz Syndrome 4
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... OMIM:614816
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Pulmonary arterial hypertension, Atrial septal defect... OMIM:620186
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Coarctation of aorta ORPHA:284169
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Persistent left superior vena cava, Coarctation of aorta OMIM:618494
Noonan Syndrome 9
Coarctation of aorta OMIM:616559
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Abnormal cerebral vas... ORPHA:363705
Meacham Syndrome
Abnormality of the spleen, Patent ductus arteriosus, Anomalous pulmonary venous return, Conotrunc... ORPHA:3097
Microphthalmia, Syndromic 9
Truncus arteriosus, Patent ductus arteriosus, Multilobulated spleen, Coarctation of aorta, Pulmon... OMIM:601186
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Aplastic anemia, Thrombocytopenia, Coarctation of aorta OMIM:300514
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coar... OMIM:164210
Arterial Tortuosity Syndrome
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... OMIM:208050
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... ORPHA:3342
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:617159
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Retic... ORPHA:124
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular dilatation, Aortic a... ORPHA:1900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta OMIM:614300
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta ORPHA:96147
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotranspositio... OMIM:270100
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Coarctation of aorta OMIM:600987
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta OMIM:618929
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Coarctation of aorta ORPHA:371428
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Vascular dilatation, Aortic dissection OMIM:618343
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Coarctation of aorta OMIM:617602
Kleefstra Syndrome
Pulmonary artery stenosis, Tetralogy of Fallot, Coarctation of aorta ORPHA:261494
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary venous... OMIM:265380
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic root aneurysm, Pe... OMIM:617506
Fg Syndrome Type 1
Coarctation of aorta ORPHA:93932
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Noonan Syndrome 2
Patent ductus arteriosus, Leukemia, Abnormal coronary artery origin, Coarctation of aorta OMIM:605275
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Leukopeni... ORPHA:84
Acrocardiofacial Syndrome
Truncus arteriosus, Tetralogy of Fallot, Coarctation of aorta ORPHA:2008
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarctation of aorta ORPHA:2780
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... OMIM:613795
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta ORPHA:2396
Pagod Syndrome
Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Abno... ORPHA:991
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... OMIM:113620
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Marfan Syndrome
Descending aortic dissection, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm... ORPHA:558
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta ORPHA:1692
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Abnormal aortic morphology, Coarctation of aorta ORPHA:1052
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Growth delay, Intracranial hemorrhage, Intrauterine growth reta... OMIM:613406
Maternal Phenylketonuria
Double outlet right ventricle, Tetralogy of Fallot, Coarctation of aorta ORPHA:2209
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Coarctation of aorta, Persis... OMIM:105650
Kabuki Syndrome 2
Coarctation of aorta OMIM:300867
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta OMIM:617260
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Coarctation of ... OMIM:274000
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta OMIM:614114
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmonary collateral arteries, Aortopulmo... OMIM:620025
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Patent ductus arteriosus, Dilatation of the cerebral artery, Aortic dissecti... ORPHA:284984
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta OMIM:614921
Opitz Gbbb Syndrome
Patent ductus arteriosus, Persistent left superior vena cava, Aortic root aneurysm, Coarctation o... ORPHA:2745
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Interrupted aortic arch, Coarctation of aorta ORPHA:17
Galloway-Mowat Syndrome 3
Coarctation of aorta OMIM:617729
Noonan Syndrome 10
Patent ductus arteriosus, Coarctation of aorta OMIM:616564
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Mosaic Trisomy 16
Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta ORPHA:1708
Toriello-Carey Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta ORPHA:3338
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries OMIM:617557
Oculoectodermal Syndrome
Patent ductus arteriosus, Transient ischemic attack, Coarctation of aorta OMIM:600268
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Abnormal aortic morphology, Peripheral arterial stenosis, Hepatosplenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Abnormal aortic morphology, Peripheral arterial stenosis, Hepatosplenomegaly ORPHA:217093
Orofaciodigital Syndrome Vi
Coarctation of aorta OMIM:277170
Hardikar Syndrome
Hypersplenism, Splenomegaly, Patent ductus arteriosus, Pulmonary artery stenosis, Partial anomalo... OMIM:301068
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Tetralogy of Fallot, Coarctation of aorta ORPHA:508498
Cocaine Intoxication
Subarachnoid hemorrhage, Ischemic stroke, Cerebral hemorrhage, Aortic dissection ORPHA:90068
Mucopolysaccharidosis Type 2
Splenomegaly, Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:580
Distal Deletion 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Alagille Syndrome 1
Coarctation of aorta, Stroke, Renal artery stenosis, Tetralogy of Fallot, Peripheral pulmonary ar... OMIM:118450
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture OMIM:614557
Rubinstein-Taybi Syndrome 1
Accessory spleen, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Aortic isthmus h... OMIM:180849
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Vascula... OMIM:249000
Osteogenesis Imperfecta
Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial dissection, Thrombocytopen... ORPHA:666
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Coarctation of aorta OMIM:620066
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta ORPHA:1199
Jacobsen Syndrome
Thrombocytopenia, Coarctation of aorta ORPHA:2308
Marfan Syndrome
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Aortic disse... OMIM:154700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... ORPHA:90348
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Transient ischemic attack, Coronary artery calcification,... ORPHA:51608
Igg4-Related Kidney Disease
Arteritis, Abnormal aortic morphology, Eosinophilia ORPHA:449395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, Transposition o... OMIM:612474
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Myhre Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:139210
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... ORPHA:286
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Patent ductus arteriosus, Coarctation of aorta OMIM:617088
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... ORPHA:99226
Smith-Lemli-Opitz Syndrome
Splenomegaly, Patent ductus arteriosus, Coarctation of aorta OMIM:270400
17Q11 Microdeletion Syndrome
Abnormal internal carotid artery morphology, Coarctation of aorta, Dilatation of the cerebral art... ORPHA:97685
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Coarctation of aorta OMIM:619480
Robinow Syndrome
Coarctation of aorta ORPHA:97360
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Patent ductus arteriosus, Juvenile myelomonocytic leukemia, Coa... OMIM:163950
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Vascular ring, Patent ductus arteriosus, Coarctation of aorta ORPHA:353281
45,X/46,Xy Mixed Gonadal Dysgenesis
Coarctation of aorta ORPHA:1772
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Vascular ring, Patent ductus arteriosus, Abnormal subclavian artery morphology, Coarctation of aorta ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Vascular ring, Patent ductus arteriosus, Abnormal subclavian artery morphology, Coarctation of aorta ORPHA:353277
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Coarctation of aorta OMIM:210710
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta ORPHA:363611
Floating-Harbor Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Coarctation of aorta ORPHA:2044
Kabuki Syndrome 1
Hemolytic anemia, Coarctation of aorta, Autoimmune thrombocytopenia OMIM:147920
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Coarctation of aorta OMIM:220111
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Asplenia, Tetralogy of Fallot, Coarctation of aorta, Abnormality of the p... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Asplenia, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of a... ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Asplenia, Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fa... ORPHA:2152
Pallister-Killian Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601803
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092

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 Mib1

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 Mib1.

No publications found that use IMPC mice or data for Mib1.

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
Mib1tm46455(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mib1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mib1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mib1tm46455(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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