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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
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... OMIM:615451
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:608644
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... OMIM:618300
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... OMIM:615482
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613807
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615504
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... OMIM:614874
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615505
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615500
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... OMIM:614017
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Chronic bronchitis, Si... OMIM:616037
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, Polysplenia OMIM:612776
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... OMIM:613193
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:300991
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... OMIM:614935
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:608647
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:617092
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... OMIM:620197
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613808
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Cervical ribs, Dextrocardia ORPHA:66630
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... OMIM:619607
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... OMIM:612649
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... OMIM:619608
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili... OMIM:610852
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Mirror Movements 3
Situs inversus totalis OMIM:616059
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal rib morphology, Abnorma... ORPHA:1666
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... OMIM:306955
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... OMIM:614034
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent lower respiratory tr... OMIM:618254
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Reduced forced... OMIM:613686
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspleni... OMIM:270100
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple... ORPHA:210122
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like ... OMIM:185070
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Atrioventricula... OMIM:619123
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Thin ribs OMIM:602361
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Respiratory distress ORPHA:89844
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Posterior rib fu... OMIM:265380
Double Outlet Right Ventricle
Ventricular septal defect, Tachypnea, Double outlet right ventricle, Coarctation of aorta, Hetero... ORPHA:3426
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... OMIM:601186
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... OMIM:202650
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus... ORPHA:99776
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Abnormal rib morphology, Pulmonary artery hypo... ORPHA:991
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress ORPHA:990
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Renpenning Syndrome
Heterotaxy, Abnormal rib morphology ORPHA:3242
Joubert Syndrome
Situs inversus totalis, Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... ORPHA:185
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, Aspiration pneum... OMIM:617053
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Situs inversus totalis, Congenital hepatic fibrosis, Asple... ORPHA:564
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Missing ribs, Respiratory insufficiency, Abnormal tricuspid valve mor... ORPHA:1759
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Isomerism, Transposition of the great arteries, Pulmonary hypoplasia, Atrioventricu... OMIM:314390
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Patent ductus... OMIM:249000
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Cough, Abnormal vena cava morphology ORPHA:99868
Proteus Syndrome
Splenomegaly, Lymphangioma, Venous malformation OMIM:176920
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Pulmonar... ORPHA:90308
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... ORPHA:2257
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... OMIM:619534
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph... ORPHA:33276
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Pseudoaminopterin Syndrome
Asplenia, Patent foramen ovale ORPHA:221120
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... ORPHA:97289
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p... ORPHA:227982
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Renpenning Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis OMIM:309500
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect OMIM:618846
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Lymphangioma, Arteriovenous malformation ORPHA:137608
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism ORPHA:624
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Asplenia, Abn... ORPHA:261537
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Intrahepati... OMIM:243800
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Asplenia, Patent ductus arteriosus, Abnormal heart... ORPHA:2152
Ring Chromosome 7 Syndrome
Situs inversus totalis ORPHA:1449
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Mitral valve prolapse, Restrictive ventilatory defect, Aortic dissection, Ar... ORPHA:1900
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Dyspnea, Right ventricular hypertro... ORPHA:1677
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Proteus-Like Syndrome
Venous insufficiency, Splenomegaly, Thymus hyperplasia, Bronchogenic cyst ORPHA:2969
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Telangiectasia, Hereditary Hemorrhagic, Type 4
Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmonary arteriovenous malformation... OMIM:610655
Clapo Syndrome
Lymphangioma, Varicose veins, Venous malformation ORPHA:168984
Livedoid Vasculopathy
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... ORPHA:542643
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation OMIM:612918
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... ORPHA:276280
Foix-Alajouanine Syndrome
Arteriovenous fistula, Venous malformation ORPHA:79093
Menkes Disease
Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnormal carotid artery morphol... ORPHA:565
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Occipital Horn Syndrome
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Vascular dilatation ORPHA:198
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Apnea ORPHA:285
Microphthalmia With Limb Anomalies
Venous insufficiency ORPHA:1106
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
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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