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

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
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... 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
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... ORPHA:3400
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect OMIM:615297
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Tetralogy of Fallot OMIM:615779
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... OMIM:618780
Tricuspid Atresia
Transposition of the great arteries, Persistent left superior vena cava, Coarctation of aorta, Pu... ORPHA:1209
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... OMIM:618164
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Abnormality of the pulmonary ... ORPHA:1131
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Patent ductus arteriosus, Coarctation of aorta, Truncus arte... OMIM:612474
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:613854
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Heart murmur, Ventricular se... ORPHA:860
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Abnormal aortic morphology ORPHA:3405
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot ORPHA:261243
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
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
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal descending aorta morphology, Anomalous origin of left pulmonary artery from ascending ao... ORPHA:99050
Transaldolase Deficiency
Anemia, Thrombocytopenia, Coarctation of aorta, 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
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Descending thoracic aorta aneury... ORPHA:91387
Heterotaxy, Visceral, 4, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Polysplenia, Bilateral super... OMIM:613751
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... ORPHA:453499
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation OMIM:130090
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Short stature, Branchial fistula, Ventricular septal defect, Aortic regurgi... ORPHA:261330
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Holoprosencephaly, Short neck, Arrhythmia, Te... ORPHA:2162
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Hydrocephalus, Tricuspid regurgitation, Branchial fistula, Ventricular ... ORPHA:261337
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Coarctation of the descendin... ORPHA:1457
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Ectopia cordis, Cystic hygroma, Patent ductus arteriosus, Transpositi... OMIM:313850
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... OMIM:617205
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Oligomeganephronia
Branchial cyst, Dehydration, Secundum atrial septal defect ORPHA:2260
Bor Syndrome
Branchial cyst ORPHA:107
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Diabetic Embryopathy
Abnormality of the pulmonary artery, Transposition of the great arteries, Tetralogy of Fallot, Ab... ORPHA:1926
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Cystic h... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Cystic h... ORPHA:352665
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Patent ductus arteriosus, Neutropenia, Thrombocytopenia, Normochromic anemia OMIM:614857
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteriosus, Va... OMIM:606519
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Aortic dissecti... OMIM:175050
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... ORPHA:980
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... OMIM:306955
Scimitar Syndrome
Double outlet right ventricle, Anomalous pulmonary venous return, Left superior vena cava drainin... ORPHA:185
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta OMIM:614300
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Single coronary artery origin, Double aortic arch, Right aortic ar... OMIM:619702
Right Atrial Isomerism
Tetralogy of Fallot, Pulmonary artery atresia, Total anomalous pulmonary venous return, Transposi... OMIM:208530
Transaldolase Deficiency
Splenomegaly, Hepatosplenomegaly, Coarctation of aorta, Patent ductus arteriosus, Pancytopenia, A... OMIM:606003
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Encephalocele ORPHA:861
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Accessory spleen, Coarctat... OMIM:608978
Truncus Arteriosus
Ventricular septal defect, Intrauterine growth retardation, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Holt-Oram Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:392
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Ascending aortic dissection, Coarctation of a... ORPHA:402075
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Transposition of the great arteries, Pulmonary art... ORPHA:251071
Double Outlet Right Ventricle
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... ORPHA:3426
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot ORPHA:261183
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Phaver Syndrome
Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia ORPHA:2876
Loeys-Dietz Syndrome 4
Aortic tortuosity, Arterial tortuosity, Aortic dissection, Aortic root aneurysm, Ascending tubula... OMIM:614816
Mullegama-Klein-Martinez Syndrome
Coarctation of aorta OMIM:301022
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... OMIM:618280
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Coarctation of aorta ORPHA:284169
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta OMIM:616145
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... ORPHA:2255
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
Microphthalmia, Syndromic 9
Multilobulated spleen, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresia, Paten... OMIM:601186
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteri... ORPHA:363705
Noonan Syndrome 9
Coarctation of aorta OMIM:616559
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short stature, Short neck, Coarctation of aorta, Spina bifida occu... ORPHA:508488
Meacham Syndrome
Anomalous pulmonary venous return, Abnormality of the spleen, Coarctation of aorta, Tetralogy of ... ORPHA:3097
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Patent ductus arteriosus, Coarctation of aorta, Aplastic anemia OMIM:300514
Craniofacial Microsomia
Hydrocephalus, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductu... OMIM:164210
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Arterial Tortuosity Syndrome
Generalized arterial tortuosity, Aortic tortuosity, Ischemic stroke, Pulmonary artery stenosis OMIM:208050
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins OMIM:618343
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic dissection, Vascular dilatation, Aortic root aneurysm,... ORPHA:3342
Loeys-Dietz Syndrome 2
Carotid artery dilatation, Generalized arterial tortuosity, Pulmonary artery aneurysm, Ascending ... OMIM:610168
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot OMIM:617159
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2059
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Radial a... ORPHA:124
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Aortic a... ORPHA:1900
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Tetralogy of Fallot, Coarctation of aorta ORPHA:96147
Giant Cell Arteritis
Abdominal aortic aneurysm, Aortic dissection, Vasculitis, Double outlet right ventricle with subp... ORPHA:397
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery OMIM:600460
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Coarctation of aorta OMIM:618929
Lowry-Maclean Syndrome
Coarctation of aorta ORPHA:2409
Meester-Loeys Syndrome
Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissection OMIM:300989
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... ORPHA:99125
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary lymphangiectasia, Coarctation of aorta, Tetralogy of Fallot, Misalignment of the pulmon... OMIM:265380
Alport Syndrome
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta OMIM:600987
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Coarctation of aorta ORPHA:371428
Kleefstra Syndrome
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot ORPHA:261494
Phace Syndrome
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... ORPHA:42775
Loeys-Dietz Syndrome
Arterial dissection, Arterial tortuosity, Aortic dissection, Patent ductus arteriosus, Vascular d... ORPHA:60030
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta OMIM:617602
Noonan Syndrome 2
Abnormal coronary artery origin, Leukemia, Patent ductus arteriosus, Coarctation of aorta OMIM:605275
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta ORPHA:2396
Acrocardiofacial Syndrome
Truncus arteriosus, Coarctation of aorta, Tetralogy of Fallot ORPHA:2008
Fanconi Anemia
Arteriovenous malformation, Abnormal carotid artery morphology, Leukopenia, Tetralogy of Fallot, ... ORPHA:84
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Aortic tortuosity, Subarachnoid hemorrhage,... OMIM:613795
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarctation of aorta ORPHA:2780
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the spleen, Abnormality of the pulmonary artery, Abno... ORPHA:991
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Coarctation of aorta OMIM:613426
Marfan Syndrome
Aortic tortuosity, Ascending aortic dissection, Arterial dissection, Pulmonary artery dilatation,... ORPHA:558
Branchiooculofacial Syndrome
Short neck, Branchial anomaly, Postnatal growth retardation, Intrauterine growth retardation, Low... OMIM:113620
Fg Syndrome Type 1
Coarctation of aorta ORPHA:93932
Mosaic Trisomy 1
Coarctation of aorta, Pulmonary artery atresia ORPHA:1692
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Coarctation of aorta, Patent ductus arteriosus, Aortic root... OMIM:617506
Maternal Phenylketonuria
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot ORPHA:2209
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Coarctation of aorta, Abnormal aortic morphology ORPHA:1052
Witteveen-Kolk Syndrome
Short stature, Branchial fistula, Intracranial hemorrhage, Growth delay, Intrauterine growth reta... OMIM:613406
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta OMIM:617260
Kabuki Syndrome 2
Coarctation of aorta OMIM:300867
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Coarctation of aorta, Tetralogy of Fallot, Patent... OMIM:274000
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Coarctation of aorta, Thrombocytosis, Neutropenia, Thrombocytopeni... OMIM:105650
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Aortic ro... OMIM:620025
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta OMIM:614114
Pseudotrisomy 13 Syndrome
Coarctation of aorta OMIM:264480
Noonan Syndrome 10
Patent ductus arteriosus, Coarctation of aorta OMIM:616564
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Abdominal aortic aneurysm, Dilatation of the sinus of V... ORPHA:284984
Opitz Gbbb Syndrome
Persistent left superior vena cava, Patent ductus arteriosus, Aortic root aneurysm, Coarctation o... ORPHA:2745
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta OMIM:600268
Congenital Disorder Of Glycosylation, Type It
Coarctation of aorta OMIM:614921
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta OMIM:244450
Viss Syndrome
Double outlet right ventricle, Carotid artery dilatation, Tortuous cerebral arteries, Abnormal br... OMIM:619472
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Patent ductus arteriosus, Coarctation of aorta ORPHA:17
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture OMIM:614557
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Hepatosplenomegaly, Abnormal aortic morphology, Splenomegaly ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Hepatosplenomegaly, Abnormal aortic morphology, Splenomegaly ORPHA:217093
Mosaic Trisomy 16
Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta ORPHA:1708
Cocaine Intoxication
Aortic dissection, Subarachnoid hemorrhage, Cerebral hemorrhage, Ischemic stroke ORPHA:90068
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Abnormal aortic morphology, Splenomegaly ORPHA:580
Hardikar Syndrome
Splenomegaly, Hepatosplenomegaly, Coarctation of aorta, Partial anomalous pulmonary venous return... OMIM:301068
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Coarctation of aorta, Tetralogy of Fallot ORPHA:508498
Igg4-Related Kidney Disease
Eosinophilia, Arteritis, Abnormal aortic morphology ORPHA:449395
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Stroke, Coarctation of aorta, Tetralogy of Fallot, Renal ar... OMIM:118450
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Coarctation of aorta, Tetralogy of Fallot OMIM:618748
Mycophenolate Mofetil Embryopathy
Coarctation of aorta ORPHA:268249
Rubinstein-Taybi Syndrome 1
Accessory spleen, Coarctation of aorta, Patent ductus arteriosus, Persistent left superior vena c... OMIM:180849
Osteogenesis Imperfecta
Cerebral hemorrhage, Arterial dissection, Aortic dissection, Aortic root aneurysm, Aortic aneurys... ORPHA:666
Marfan Syndrome
Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Aortic dissection, Aortic root ane... OMIM:154700
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Peripheral pulmonary artery stenosis, Coarctation of aorta,... ORPHA:90348
Meckel Syndrome, Type 1
Splenomegaly, Accessory spleen, Coarctation of aorta, Patent ductus arteriosus, Vascular dilatati... OMIM:249000
Jacobsen Syndrome
Thrombocytopenia, Coarctation of aorta ORPHA:2308
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Coarctation of aorta OMIM:620066
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Esophageal Atresia
Coarctation of aorta, Tetralogy of Fallot ORPHA:1199
Generalized Arterial Calcification Of Infancy
Stroke, Medial calcification of medium-sized arteries, Arterial calcification, Calcification of t... ORPHA:51608
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Myhre Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:139210
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac and mesenteric vessels, Pulmon... ORPHA:286
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Coarctation of aorta, Splenomegaly OMIM:617088
Kabuki Syndrome
Coarctation of aorta ORPHA:2322
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... ORPHA:99413
Turner Syndrome
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... ORPHA:881
Mosaic Monosomy X
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... ORPHA:99228
Monosomy X
Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... ORPHA:99226
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus, Coarctation of aorta, Splenomegaly OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Coarctation of aorta, Tetralogy of Fallot OMIM:210710
17Q11 Microdeletion Syndrome
Stroke, Abnormal internal carotid artery morphology, Coarctation of aorta, Dilatation of the cere... 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, Juvenile myelomonocytic leukemia, Patent ductus arteriosus, Coa... OMIM:163950
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta ORPHA:363611
45,X/46,Xy Mixed Gonadal Dysgenesis
Coarctation of aorta ORPHA:1772
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Vascular ring, Patent ductus arteriosus, Coarctation of aorta ORPHA:353281
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta, Tetralogy of Fallot ORPHA:2044
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Vascular ring, Abnormal subclavian artery morphology, Patent ductus arteriosus, Coarctation of aorta ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Vascular ring, Abnormal subclavian artery morphology, Patent ductus arteriosus, Coarctation of aorta ORPHA:353277
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Coarctation of aorta OMIM:147920
Pallister-Hall Syndrome
Patent ductus arteriosus, Coarctation of aorta ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Pulmonary artery sling, Coarctation of aorta, Tetralogy of Fallot, Abnormality of the pulmonary a... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pulmonary artery sling, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Abno... ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Aspl... ORPHA:2152
Pallister-Killian Syndrome
Patent ductus arteriosus, Coarctation of aorta 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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