Gene Summary

Name:
polybromo 1
Synonyms:
Pb1,  2610016F04Rik,  2310032M22Rik,  BAF180

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 0.00
decreased prepulse inhibition Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 2.24×10-05
abnormal gait Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 2.05×10-08
decreased circulating creatinine level Pbrm1tm1b(EUCOMM)Wtsi HET   Early adult 7.74×10-05
preweaning lethality, complete penetrance Pbrm1tm1b(EUCOMM)Wtsi HOM   Early adult 3.19×10-07
increased mean platelet volume Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 1.25×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

Human diseases caused by Pbrm1 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 Pbrm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Cell Carcinoma, Nonpapillary
OMIM:144700

The table below shows human diseases predicted to be associated to Pbrm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Myh9-Related Disease
Proteinuria, Giant platelets, Nephritis, Nephropathy, Neutrophil inclusion bodies, Renal insuffic... ORPHA:182050
Fechtner syndrome
Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Nephritis, Neutrophil inclus... OMIM:153640
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Decreased serum creatinine, Renal insufficiency, Ret... ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612926
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversus totalis, Pulmonic stenosis... OMIM:615415
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Glomerulonephr... OMIM:607665
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Ataxia, Thrombocytopenia, Hypospadias, Increased mean ... OMIM:616737
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Proteinur... ORPHA:567544
Preeclampsia
Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Chronic kidney d... ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Macroscopic hematuria, Decreased platelet glycoprotein Ib... ORPHA:274
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Proteinuria, Ataxia, Neutropenia, Aminoaciduria, Decreased platelet glycop... OMIM:603585
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, G... OMIM:222470
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Horseshoe kidney, Acanthocytosis, Hyperbilirubinemia, Anisopo... OMIM:607330
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Elevated circulating creatinine concentration, Renal in... OMIM:619468
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Protein... OMIM:274150
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic s... OMIM:235400
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Splenomegaly, Polycystic kidney dysplasia, Abnormality of iron ... ORPHA:84064
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
C3 Glomerulopathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Acute kidney injury... ORPHA:329918
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Relapsing Fever
Leukopenia, Leukocytosis, Hematuria, Acute kidney injury, Elevated circulating creatinine concent... ORPHA:91547
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... ORPHA:487796
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:613095
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Atrial septal defect, Bile duct proliferation, ... OMIM:208540
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Anemia, Thro... ORPHA:90060
Pallister-Hall-Like Syndrome
Occipital encephalocele, Abnormal heart morphology, Pulmonary hypoplasia OMIM:241800
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Accessory spleen, Hepatopulmonary fusion, Atrial septal defect, Dysplastic t... OMIM:618280
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, V... OMIM:618316
Scimitar Syndrome
Bronchogenic cyst, Tetralogy of Fallot, Pulmonary sequestration, Tricuspid atresia, Pulmonary art... ORPHA:185
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, Partial diaphragmatic absen... ORPHA:2847
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Nephrotic syndrome, Elevated circulating creatinine concentration, Proteinuri... ORPHA:85450
Pentalogy Of Cantrell
Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Atrial septal defect, A... ORPHA:1335
Meacham Syndrome
Tetralogy of Fallot, Stillbirth, Accessory spleen, Atrial septal defect, Neonatal death, Scimitar... OMIM:608978
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Bile duct proliferation, Anencephaly, Cystic liver d... OMIM:612284
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Decreased plasma total carnitine, Elevated circulating creatinine concentration,... OMIM:608836
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenomegaly, Hepatomegaly, Neonatal ... OMIM:263200
Serkal Syndrome
Pulmonary hypoplasia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Urinary incontinence, De... OMIM:618885
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Normocytic anemia, Unilateral renal hypoplasia, Acute kidney injury, Dysuria,... ORPHA:49041
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Hydranencephaly, Stillbirth, Pulmonary hypoplasia OMIM:236500
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine concentration, H... ORPHA:411634
Alg3-Cdg
Neural tube defect, Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function ORPHA:79321
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Hypoplastic spleen, Tetralogy of Fallot, Atrial septal defect, Bil... OMIM:601186
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia OMIM:263210
Kagami-Ogata Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Ventricular septal defect, P... OMIM:608149
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine, Increased blood urea ni... ORPHA:230
Aapoaiv Amyloidosis
Glomerular sclerosis, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuria,... ORPHA:439232
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Normocytic anemia, Elevated circulating creatinine concentration, Proteinur... ORPHA:247691
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Hydronephrosis, Elevated circulating creatinine concentration, Ure... OMIM:154230
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Pulmonary hypoplasia OMIM:300978
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Decreased urine output, Acute ... ORPHA:542323
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia OMIM:256050
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect, Pulmonary hypoplasia OMIM:617022
Primary Pulmonary Hypoplasia
Dextrocardia, Recurrent respiratory infections, Pneumothorax, Secundum atrial septal defect, Abno... ORPHA:2257
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Pulmonary... OMIM:616897
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Jaundice, Hepatic periportal necrosis, Neonatal death, Pulmonary... OMIM:231680
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Nephrolithiasis, Decreased numbers of nephrons... OMIM:137920
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Pulmonary artery hypopl... ORPHA:3384
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Atrial s... ORPHA:95430
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Single ventricle, Umbilical hernia, Stillbirth, Pulmonary hypoplasia, Abnormal cardiac septum mor... OMIM:308050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Glomerular sclerosis, Elevated circulating creatinine concentratio... OMIM:223900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Acute kidney injury, Protein... ORPHA:93126
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Leukocytosis, Elevated circulating creatinine conce... ORPHA:340
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Aortopulmon... ORPHA:99050
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Neonatal death, Cardiomegaly, Pu... OMIM:608013
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Igg4-Related Kidney Disease
Urinary bladder inflammation, Eosinophilia, Enlarged kidney, Abnormal ureter morphology, Elevated... ORPHA:449395
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis OMIM:611812
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Czeizel-Losonci Syndrome
Myelomeningocele, Dextrocardia, Spina bifida, Spina bifida occulta, Pulmonary hypoplasia ORPHA:2437
Mosaic Trisomy 16
Atrial septal defect, Large placenta, Abnormal heart morphology, Ventricular septal defect, Abnor... ORPHA:1708
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Recurrent pneumonia, Patent foramen ovale, Atrial septal defect, Bronchiecta... ORPHA:980
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Pancreatic fibrosis OMIM:615503
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Patent foramen ovale, Pulmonary artery stenosis, Umbilical hernia, Pulmonary hypoplasia OMIM:613177
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Secundum atrial septal defect, Situs inversus totalis OMIM:202650
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Periportal fibrosis, Anencephaly, Splenomegaly, Hepatomegaly, Ventricular s... OMIM:269860
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Matthew-Wood Syndrome
Abnormal spleen morphology, Annular pancreas, Abnormal lung morphology, Aplasia/Hypoplasia of the... ORPHA:2470
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Anencephaly, Ectopia cordis, Transposition of the great arteries OMIM:313850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia, Cardiomyopathy, Patent foramen ovale, Secundum atrial septal defect OMIM:616866
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Pagod Syndrome
Pulmonary artery hypoplasia, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Abnorm... ORPHA:991
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibrosis, Polysplenia, Hepatic fibrosis, Pulm... OMIM:200995
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Hepatoblastoma, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholan... ORPHA:731
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Pulmonary hypoplasia OMIM:619148
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Mosaic Trisomy 1
Pulmonary artery atresia, Hepatic agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:1692
Alg9-Cdg
Abnormal lung lobation, Right ventricular dilatation, Periportal fibrosis, Atrial septal defect, ... ORPHA:79328
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... OMIM:617063
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Yellow Fever
Leukocytosis, Elevated circulating creatinine concentration, Acute kidney injury, Anuria, Neutrop... ORPHA:99829
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Ventricular septal de... OMIM:214100
Greenberg Dysplasia
Hepatosplenomegaly, Neonatal death, Pancreatic islet-cell hyperplasia, Hepatomegaly, Large placen... OMIM:215140
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Anencephaly, Pulmonary hypoplasia OMIM:616546
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Bile duct proliferation, Anencephaly, Splenomegaly, La... OMIM:249000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Recurrent respirat... OMIM:208500
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal Fanconi syndrome, Normocytic anemia, Elevated circulating creatinine concentration, Beta 2-... ORPHA:91500
Neu-Laxova Syndrome 1
Short umbilical cord, Patent foramen ovale, Hydranencephaly, Spina bifida, Ventricular septal def... OMIM:256520
Distal Tetrasomy 15Q
Atrial septal defect, Abnormal heart morphology, Pulmonary hypoplasia ORPHA:314588
Diaphanospondylodysostosis
Abnormal liver lobulation, Pulmonary hypoplasia OMIM:608022
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary... OMIM:263520
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Umbilical hernia, Abnormal aortic valve morphology, Pulmonary hypoplasia ORPHA:2990
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Abnormal heart morphology, Encephalocele ORPHA:1865
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Opitz gbbb syndrome, type II
Absent gallbladder, Atrial septal defect, Ventricular septal defect, Umbilical hernia, Pulmonary ... OMIM:145410
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Absent gallbladder, Neonatal death, ... OMIM:617925
Caudal Regression Syndrome
Pulmonary hypoplasia, Arrhinencephaly ORPHA:3027
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Otopalatodigital Syndrome Type 2
Myelomeningocele, Abnormal heart valve morphology, Encephalocele, Pulmonary hypoplasia, Abnormal ... ORPHA:90652
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Restrictive Dermopathy 1
Short umbilical cord, Atrial septal defect, Hydropic placenta, Stillbirth, Pulmonary hypoplasia OMIM:275210
Fryns Syndrome
Chylothorax, Atrial septal defect, Ectopic pancreatic tissue, Ventricular septal defect, Polysple... OMIM:229850
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Fryns Syndrome
Tetralogy of Fallot, Pulmonary hypoplasia, Abnormal cardiac septum morphology ORPHA:2059
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Pulmonary hypoplasia ORPHA:1190
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Sirenomelia ORPHA:1848
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Pulmonary hypoplasia OMIM:616503
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Pulmonary hypoplasia OMIM:614080
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Esophageal Atresia
Tetralogy of Fallot, Recurrent respiratory infections, Ventricular septal defect, Pulmonary hypop... ORPHA:1199
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Multiple Pterygium Syndrome, Escobar Variant
Umbilical hernia, Pulmonary hypoplasia OMIM:265000
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, Pneumothorax, Neonatal de... OMIM:612289
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Small placenta, Pulmonary hypoplasia OMIM:208150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatoblastoma, Hepatosplenomegaly, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatomega... ORPHA:96334
Neu-Laxova Syndrome
Spina bifida, Pulmonary hypoplasia ORPHA:2671
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasia, Perimembranous ventricu... ORPHA:83617
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Tetrasomy 9P
Absent gallbladder, Patent foramen ovale, Abnormal mitral valve morphology, Dextrocardia, Jaundic... ORPHA:3310
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:2886
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Encephalocele OMIM:616300
Restrictive Dermopathy
Short umbilical cord, Atrial septal defect, Dextrocardia, Large placenta, Small placenta, Transpo... ORPHA:1662
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Pneumothorax, Pulmonary hypoplasia OMIM:266910
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Atrial septal defect, Ventricular septal defect, Atrioventricular... ORPHA:818
Maternal Uniparental Disomy Of Chromosome 2
Pulmonary hypoplasia, Respiratory infections in early life ORPHA:96179
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Atrial septal defect, Pulmonic stenosis, Aortic valve stenosis, ... ORPHA:536471
Joubert Syndrome 21
Occipital encephalocele, Pulmonary hypoplasia OMIM:615636
Schinzel-Giedion Syndrome
Recurrent pneumonia, Hepatoblastoma, Neural tube defect, Abnormal heart morphology, Annular pancr... ORPHA:798
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Cholestatic liver disease, Abnormal lung lobatio... OMIM:270400
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Vacterl With Hydrocephalus
Spina bifida, Pulmonary hypoplasia, Arrhinencephaly ORPHA:3412
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse, Repeated pneumothoraces, Pulmonary hypoplasia ORPHA:536467
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Osteogenesis Imperfecta
Abnormal endocardium morphology, Umbilical hernia, Mitral valve prolapse, Pulmonary hypoplasia ORPHA:666
Fraser Syndrome 1
Pulmonary hypoplasia, Abnormal heart morphology, Myelomeningocele, Encephalocele OMIM:219000
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Pulmonary hypoplasia ORPHA:86309
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:606170
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Asplenia OMIM:273395
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Fraser Syndrome
Pulmonary hypoplasia, Myelomeningocele, Abnormal lung lobation, Umbilical hernia, Encephalocele ORPHA:2052
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:2753
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Pallister-Killian Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Umbilical hernia, A... OMIM:601803
Craniofacial Microsomia
Tetralogy of Fallot, Occipital encephalocele, Ventricular septal defect, Branchial anomaly, Pulmo... OMIM:164210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Pulmonary hypoplasia ORPHA:93271
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Pulmonary hypoplasia OMIM:309800
Renal Cell Carcinoma, Nonpapillary
OMIM:144700

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 Pbrm1

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 Pbrm1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of PBRM1 rescues VHL dependent replication stress to promote renal carcinogenesis. Nature communications (December 2017) Pbrm1tm1c(EUCOMM)Wtsi Pbrm1tm1a(EUCOMM)Wtsi PMC5725450
Modeling Renal Cell Carcinoma in Mice: Bap1 and Pbrm1 Inactivation Drive Tumor Grade. Cancer discovery (May 2017) Pbrm1tm1a(EUCOMM)Wtsi PMC5540776

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MGI Allele Allele Type Produced
Pbrm1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pbrm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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