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:
mind bomb-1,  mindbomb,  skeletrophin,  E430019M12Rik,  Mib

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 cardiomyopathy, Left ventricular noncompaction 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
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary art... ORPHA:3400
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Fibromuscular Dysplasia, Arterial
Aortic dissection, Arterial fibromuscular dysplasia OMIM:135580
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Tetralogy of Fallot OMIM:615779
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Aortopulmonary collateral arteries, Tetralogy of Fallot, Double aortic arch, P... OMIM:618780
Tricuspid Atresia
Persistent left superior vena cava, Transposition of the great arteries, Coarctation of aorta, Pu... ORPHA:1209
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Double outlet right ventricle, Coarctation of aorta, Cystic hygroma, P... OMIM:618164
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Coarctation of aorta, Truncus arteriosus, Patent ductus arte... OMIM:612474
X-Linked Mandibulofacial Dysostosis
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... ORPHA:1131
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Truncus arteriosus, Transposition of the gre... OMIM:217095
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Short stature, Torticollis, Patent ductus arteriosus, Pulmonic stenosi... OMIM:249670
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Hypertelorism And Tetralogy Of Fallot
Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, S... OMIM:239711
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Total anomalous pulmonary venous return, Coarctation of aorta, Hyp... OMIM:613854
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Patent ductus arterios... ORPHA:860
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... ORPHA:2041
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Coarctati... ORPHA:1120
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... ORPHA:449400
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Familial Cerebral Saccular Aneurysm
Aortic dissection, Abnormal circle of Willis morphology, Cerebral berry aneurysm, Aortic root ane... ORPHA:231160
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Anemia ORPHA:3405
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Partial Atrioventricular Septal Defect
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Pa... ORPHA:1686
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Patent d... OMIM:612938
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot ORPHA:261243
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Pulmonary artery stenosis, Severe postnatal growth retardation ORPHA:435938
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Coarctation of aorta, Anemia ORPHA:101028
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Arteria lusoria, Aortopulm... ORPHA:99050
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetralogy of Fallot ORPHA:1166
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm OMIM:130090
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine ... ORPHA:453499
Craniofacial Microsomia
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Branchial anomaly, Hyd... OMIM:164210
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... ORPHA:261330
Holoprosencephaly
Ventricular septal defect, Abnormal aortic morphology, Holoprosencephaly, Branchial anomaly, Hydr... ORPHA:2162
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic dissection, Abdominal aortic aneurysm, Descending thoracic aorta aneurysm, Mucoid extracel... ORPHA:91387
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolapse, Tricuspid re... ORPHA:261337
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Coarctation of the descending aortic arch, Pulmonary arteria... ORPHA:1457
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Patent ductus arteriosus... ORPHA:1880
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia OMIM:613426
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Dehydration ORPHA:2260
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Coarctation of aorta, Neutropenia OMIM:614857
Bor Syndrome
Branchial cyst ORPHA:107
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Conotruncal defect, Abnormal cardiac ventricle morphology, Abnormal aortic... ORPHA:2306
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Mental Retardation, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Phace Association
Coarctation of aorta, Anomalous branches of internal carotid artery, Patent ductus arteriosus, Ao... OMIM:606519
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Abnormality of the pulmonary art... ORPHA:1926
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Thoracic aortic aneury... OMIM:613834
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Cystic... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Cystic... ORPHA:352665
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Hydrocephalus, Umbilical hernia, Patent ductus arteriosus OMIM:104350
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Growth... ORPHA:980
Scimitar Syndrome
Interrupted inferior vena cava with azygous continuation, Truncus arteriosus, Left superior vena ... ORPHA:185
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta OMIM:614300
Transaldolase Deficiency
Coarctation of aorta, Anemia, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Pancyto... OMIM:606003
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Right Atrial Isomerism
Asplenia, Total anomalous pulmonary venous return, Transposition of the great arteries, Aortopulm... OMIM:208530
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Anemia, Pulmonary arteriovenous malformation, Aortic aneurysm, Hepatic arterio... OMIM:175050
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Truncus Arteriosus
Truncus arteriosus, Patent ductus arteriosus, Pulmonary artery stenosis, Interrupted aortic arch,... ORPHA:3384
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... OMIM:600001
Double Outlet Right Ventricle
Truncus arteriosus, Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pul... ORPHA:3426
Familial Bicuspid Aortic Valve
Ascending aortic dissection, Coarctation of aorta, Thoracic aorta calcification, Aortic arch aneu... ORPHA:402075
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Transposition of the great arteries, Tetral... ORPHA:251071
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus ORPHA:861
Holt-Oram Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:392
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta OMIM:600987
Phaver Syndrome
Coarctation of aorta, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Loeys-Dietz Syndrome 4
Aortic dissection, Ascending tubular aorta aneurysm, Arterial tortuosity, Aortic root aneurysm, A... OMIM:614816
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Cardiac-Urogenital Syndrome
Patent urachus, Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Meacham Syndrome
Persistent left superior vena cava, Coarctation of aorta, Patent ductus arteriosus, Cardiac total... OMIM:608978
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot ORPHA:261183
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... ORPHA:2255
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus ORPHA:284169
Catel-Manzke Syndrome
Coarctation of aorta, Overriding aorta OMIM:616145
Thoracoabdominal Syndrome
Ectopia cordis, Anencephaly, Cystic hygroma, Patent ductus arteriosus, Transposition of the great... OMIM:313850
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... ORPHA:97214
Microphthalmia, Syndromic 9
Truncus arteriosus, Coarctation of aorta, Right aortic arch with mirror image branching, Patent d... OMIM:601186
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... ORPHA:508488
Meacham Syndrome
Abnormality of the spleen, Conotruncal defect, Coarctation of aorta, Patent ductus arteriosus, Tr... ORPHA:3097
Noonan Syndrome 9
Coarctation of aorta OMIM:616559
Craniofaciofrontodigital Syndrome
Coarctation of aorta, Anomalous branches of internal carotid artery, Patent ductus arteriosus, Pr... ORPHA:363705
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia, Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Descending thoracic aorta aneurysm, ... OMIM:610168
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation OMIM:618343
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Cerebral artery atherosclerosis, Premature coronary artery atherosclero... ORPHA:391665
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... OMIM:270100
Arterial Tortuosity Syndrome
Aortic dissection, Abnormal carotid artery morphology, Aortic root aneurysm, Aortic aneurysm, Vas... ORPHA:3342
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... OMIM:192350
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2059
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Generalized arterial tortuosity, Aortic tortuosity OMIM:208050
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Abnormal venous morphology, Arterial dissection, Aortic aneurysm, Vascular dil... ORPHA:1900
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Vasculitis, Double outlet right ventricle with subp... ORPHA:397
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Tetralogy of Fallot OMIM:617159
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Tetralogy of Fallot ORPHA:96147
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic dissection, Dilatation of the cerebral artery OMIM:300989
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Low-output congestive heart failure, Single ventricle,... ORPHA:99125
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Alport Syndrome
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta OMIM:618929
Phace Syndrome
Aortic root aneurysm, Coarctation of aorta, Tetralogy of Fallot, Abnormal carotid artery morpholo... ORPHA:42775
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Coarctation of aorta ORPHA:371428
Loeys-Dietz Syndrome
Aortic dissection, Arterial tortuosity, Patent ductus arteriosus, Aortic aneurysm, Arterial disse... ORPHA:60030
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus OMIM:618454
Kleefstra Syndrome
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot ORPHA:261494
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta OMIM:617602
Fanconi Anemia
Abnormal aortic morphology, Leukopenia, Arteriovenous malformation, Anemia, Patent ductus arterio... ORPHA:84
Noonan Syndrome 2
Leukemia, Abnormal coronary artery origin, Coarctation of aorta, Patent ductus arteriosus OMIM:605275
Acrocardiofacial Syndrome
Coarctation of aorta, Truncus arteriosus, Tetralogy of Fallot ORPHA:2008
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta ORPHA:2396
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarctation of aorta ORPHA:2780
Pagod Syndrome
Abnormality of the spleen, Abnormal aortic morphology, Abnormality of the pulmonary artery, Pulmo... ORPHA:991
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary lymphangiectasia, Pulmonary artery dilatation, Asplenia, Persi... OMIM:265380
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Marfan Syndrome
Dilatation of an abdominal artery, Ascending tubular aorta aneurysm, Pulmonary artery dilatation,... ORPHA:558
Branchiooculofacial Syndrome
Intrauterine growth retardation, Branchial anomaly, Postnatal growth retardation, Low posterior h... OMIM:113620
Loeys-Dietz Syndrome 3
Aortic dissection, Abdominal aortic aneurysm, Tortuous cerebral arteries, Dilatation of the sinus... OMIM:613795
Mosaic Trisomy 1
Coarctation of aorta, Pulmonary artery atresia ORPHA:1692
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Patent ductus arteriosus OMIM:614557
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Coarctation of aorta, Anemia, Hepatosplenomegaly, Tetralogy of Fallot, Thrombocytop... OMIM:274000
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Patent ductus arteriosus OMIM:617260
Fg Syndrome Type 1
Coarctation of aorta ORPHA:93932
Maternal Phenylketonuria
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot ORPHA:2209
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Coarctation of aorta, Patent ductus a... OMIM:617506
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Coarctation of aorta, Abnormal aortic morphology ORPHA:1052
Kabuki Syndrome 2
Coarctation of aorta OMIM:300867
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Aneurysm-Osteoarthritis Syndrome
Aortic dissection, Abdominal aortic aneurysm, Dilatation of the sinus of Valsalva, Arterial tortu... ORPHA:284984
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta OMIM:614114
Noonan Syndrome 10
Coarctation of aorta, Patent ductus arteriosus OMIM:616564
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta OMIM:614921
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Patent ductus arteriosus, Splenomegaly OMIM:617088
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Coarctation of aorta, Patent ductus arteriosus ORPHA:17
Opitz Gbbb Syndrome
Persistent left superior vena cava, Aortic root aneurysm, Coarctation of aorta, Patent ductus art... ORPHA:2745
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Meckel Syndrome, Type 1
Asplenia, Coarctation of aorta, Patent ductus arteriosus, Splenomegaly, Accessory spleen, Vascula... OMIM:249000
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Abnormal aortic morphology, Peripheral arterial stenosis, Splenomegaly ORPHA:217085
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Abnormal aortic morphology, Peripheral arterial stenosis, Splenomegaly ORPHA:217093
Viss Syndrome
Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Left aortic arch with retroesophagea... OMIM:619472
Mucopolysaccharidosis Type 2
Abnormal aortic morphology, Peripheral arterial stenosis, Splenomegaly ORPHA:580
Oculoectodermal Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:600268
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coarctation of aorta, Truncus arteriosus, Tetralogy of Fallot ORPHA:508498
Mosaic Trisomy 16
Coarctation of aorta, Single coronary artery origin, Patent ductus arteriosus ORPHA:1708
Igg4-Related Kidney Disease
Eosinophilia, Abnormal aortic morphology, Arteritis ORPHA:449395
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Coarctation of aorta, Tetralogy of Fallot OMIM:618748
Alagille Syndrome 1
Coarctation of aorta, Tetralogy of Fallot, Renal artery stenosis, Peripheral pulmonary artery ste... OMIM:118450
Jacobsen Syndrome
Thrombocytopenia, Coarctation of aorta ORPHA:2308
Marfan Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissection, Pulmonary artery dilat... OMIM:154700
Hardikar Syndrome
Coarctation of aorta, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Hypersplenism, ... OMIM:301068
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Coarctation of aorta, Peripheral pulmonary artery stenosis,... ORPHA:90348
Osteogenesis Imperfecta
Aortic dissection, Aortic root aneurysm, Arterial dissection, Aortic aneurysm, Thrombocytopenia ORPHA:666
Distal Monosomy 15Q
Abnormal aortic arch morphology, Coarctation of aorta, Double outlet right ventricle with doubly ... ORPHA:1596
Opitz Gbbb Syndrome, Type Ii
Coarctation of aorta, Patent ductus arteriosus OMIM:145410
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Esophageal Atresia
Coarctation of aorta, Tetralogy of Fallot ORPHA:1199
Cocaine Intoxication
Aortic dissection ORPHA:90068
Myhre Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:139210
Smith-Lemli-Opitz Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:270400
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Aortic dissec... ORPHA:286
Generalized Arterial Calcification Of Infancy
Aortic dissection, Arterial calcification, Coronary artery calcification, Medial calcification of... ORPHA:51608
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm ORPHA:99413
Turner Syndrome
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm ORPHA:881
Mosaic Monosomy X
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm ORPHA:99228
Monosomy X
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm ORPHA:99226
Robinow Syndrome
Coarctation of aorta ORPHA:97360
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Coarctation of aorta, Tetralogy of Fallot OMIM:210710
Noonan Syndrome 1
Patent ductus arteriosus, Coarctation of aorta, Juvenile myelomonocytic leukemia, Amegakaryocytic... OMIM:163950
17Q11 Microdeletion Syndrome
Cerebral artery stenosis, Leukemia, Abnormal internal carotid artery morphology, Coarctation of a... ORPHA:97685
Ctcf-Related Neurodevelopmental Disorder
Coarctation of aorta, Patent ductus arteriosus ORPHA:363611
45,X/46,Xy Mixed Gonadal Dysgenesis
Coarctation of aorta ORPHA:1772
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta, Tetralogy of Fallot ORPHA:2044
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Vascular ring, Coarctation of aorta, Patent ductus arteriosus ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Vascular ring, Coarctation of aorta, Abnormal subclavian artery morphology, Patent ductus arteriosus ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Vascular ring, Coarctation of aorta, Abnormal subclavian artery morphology, Patent ductus arteriosus ORPHA:353277
Kabuki Syndrome 1
Autoimmune thrombocytopenia, Hemolytic anemia, Coarctation of aorta OMIM:147920
Pallister-Hall Syndrome
Coarctation of aorta, Patent ductus arteriosus ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Coarctation of aorta, Abnormality of the pulmonary artery, Tetralogy of Fallot, Pulmona... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Coarctation of aorta, Patent ductus arteriosus, Abnormality of the pulmonary artery, Te... ORPHA:261552
Mowat-Wilson Syndrome
Asplenia, Coarctation of aorta, Patent ductus arteriosus, Tetralogy of Fallot, Pulmonary artery s... ORPHA:2152
Pallister-Killian Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601803
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction 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

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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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