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Gene: Ap1b1 MGI:1096368

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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:
adaptor protein complex AP-1, beta 1 subunit
Synonyms:
b2b1660Clo,  Adtb1,  beta-prime adaptin

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 Ap1b1 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 Ap1b1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis OMIM:242150
Mednik Syndrome
Intrahepatic cholestasis ORPHA:171851

The table below shows human diseases predicted to be associated to Ap1b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... OMIM:608644
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Ch... OMIM:615482
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory... OMIM:615451
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... OMIM:618300
Ciliary Dyskinesia, Primary, 29
Atelectasis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary dy... OMIM:615872
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Abnormal ciliary motility, Dextrocardia, Bronchiecta... OMIM:611884
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Heterotaxy, Chronic bronchitis, Abnorma... OMIM:613807
Ciliary Dyskinesia, Primary, 18
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis, Recurrent s... OMIM:614874
Ciliary Dyskinesia, Primary, 24
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia OMIM:615481
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615504
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Bronchiectasis... OMIM:613193
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615505
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory insu... OMIM:615500
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:614017
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory insu... OMIM:614935
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis, Ciliary d... OMIM:614679
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Respiratory ... OMIM:616037
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Re... OMIM:615444
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary... OMIM:616481
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia OMIM:612518
Hypoglossia With Situs Inversus
Asplenia, Situs inversus totalis, Polysplenia OMIM:612776
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Asplenia, B... OMIM:244400
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Cervical ribs ORPHA:66630
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia OMIM:612444
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... OMIM:620197
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Respiratory... OMIM:608647
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiec... OMIM:606763
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Pulm... ORPHA:244
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... OMIM:620642
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia OMIM:612650
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia OMIM:619436
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis, Ciliary dyskinesia OMIM:615294
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections, Bronch... OMIM:612649
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... OMIM:619657
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Recurrent sinusitis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:610852
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... OMIM:615382
Mirror Movements 3
Situs inversus totalis OMIM:616059
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Abnormal heart mor... ORPHA:1666
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 44
Heterotaxy, Bronchiectasis, Recurrent sinusitis OMIM:618781
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ciliary beating fr... OMIM:617091
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:617577
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a... OMIM:249270
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,... OMIM:270100
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620438
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphade... OMIM:614034
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Situs inversus totalis, Atrial septal defect OMIM:619881
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Asplenia, Pul... OMIM:619123
Stormorken Syndrome
Howell-Jolly bodies, Stroke-like episode, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Aspl... OMIM:185070
Gracile Bone Dysplasia
Thin ribs, Asplenia, Hypoplastic spleen OMIM:602361
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, M... OMIM:613686
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Ciliary dyskinesia OMIM:242670
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... ORPHA:99776
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Situs inversus totalis OMIM:614833
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heterotaxy, Ventri... ORPHA:3426
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice OMIM:613095
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia OMIM:202650
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Renpenning Syndrome
Heterotaxy, Abnormal rib morphology ORPHA:3242
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Intracranial hemorrhage,... OMIM:617053
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defe... OMIM:164280
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Congenital hepatic fibrosis, Pancreatic fibrosis, Asple... ORPHA:564
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Transposition of the great art... OMIM:314390
Ellis Van Creveld Syndrome
Acute leukemia, Emphysema, Atrioventricular canal defect, Abnormal heart valve morphology, Situs ... ORPHA:289
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Coarctation of aorta, V... OMIM:249000
Joubert Syndrome
Situs inversus totalis ORPHA:475
Proteus Syndrome
Splenomegaly, Venous malformation, Lymphangioma OMIM:176920
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Generalized lymphadeno... ORPHA:33276
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Pearson Syndrome
Bone marrow hypocellularity, Cardiomyopathy, Abnormal heart morphology, Exocrine pancreatic insuf... ORPHA:699
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Congenital alveolar dysplasia, Sci... OMIM:608978
Pseudoaminopterin Syndrome
Asplenia, Patent foramen ovale ORPHA:221120
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... OMIM:619534
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Situs inversus totalis, Dextrocardia, Ventricular septal... ORPHA:2461
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227990
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia OMIM:106700
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Veno... ORPHA:90308
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227982
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect, Ventricular septal defect OMIM:309500
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Heterotaxy, Ventricular septal defect OMIM:618846
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... OMIM:614976
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Arteriovenous malformation, Venous insufficiency ORPHA:137608
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonary valve m... ORPHA:261537
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonary valve m... ORPHA:261552
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Dilated cardiomyopathy, Exocrine pancreatic insuffici... OMIM:243800
Mowat-Wilson Syndrome
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmonary artery sling, Bi... ORPHA:2152
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Ring Chromosome 7 Syndrome
Situs inversus totalis ORPHA:1449
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Accessory spleen, Bi... OMIM:618280
Lymphatic Malformation 7
Chylothorax, Pleural effusion, Pulmonary edema, Anemia, Atrial septal defect, Varicose veins, Per... OMIM:617300
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... ORPHA:90307
Proteus-Like Syndrome
Thymus hyperplasia, Bronchogenic cyst, Splenomegaly, Venous insufficiency ORPHA:2969
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Von Willebrand Disease
Microcytic anemia, Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, Venous insu... ORPHA:903
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency ORPHA:624
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Recurrent pneumonia, Aortic dissection, Abnormal venous morphology, Mitral v... ORPHA:1900
Milroy Disease
Abnormal venous morphology, Varicose veins ORPHA:79452
Clapo Syndrome
Venous malformation, Lymphangioma, Varicose veins ORPHA:168984
Livedoid Vasculopathy
Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Venous insufficiency, Anemia, Varicose... ORPHA:542643
Enlarged Parietal Foramina
Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Splenomegaly OMIM:612918
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Abnormal venous morphology, Abnormality of the lymphatic s... ORPHA:276280
Foix-Alajouanine Syndrome
Venous malformation, Arteriovenous fistula ORPHA:79093
Menkes Disease
Arterial stenosis, Venous insufficiency, Vascular dilatation, Prolonged neonatal jaundice, Intrac... ORPHA:565
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation ORPHA:83454
Proteus Syndrome
Pulmonary cyst, Rib exostoses, Bronchogenic cyst, Arteriovenous malformation, Thymus hyperplasia,... ORPHA:744
Occipital Horn Syndrome
Hepatitis, Cholestasis, Venous insufficiency, Vascular dilatation, Jaundice ORPHA:198
Microphthalmia With Limb Anomalies
Venous insufficiency ORPHA:1106
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Mitral valve prolapse, Venous insufficiency, Ascending... ORPHA:285
Norrie Disease
Venous insufficiency ORPHA:649
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis OMIM:242150
Mednik Syndrome
Intrahepatic cholestasis ORPHA:171851

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 Ap1b1

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 Ap1b1.

No publications found that use IMPC mice or data for Ap1b1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ap1b1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap1b1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ap1b1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap1b1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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