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
decreased circulating creatinine level Pbrm1tm1b(EUCOMM)Wtsi HET   Early adult 7.74×10-05
abnormal kidney morphology Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 0.00
decreased prepulse inhibition Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 2.24×10-05
preweaning lethality, complete penetrance Pbrm1tm1b(EUCOMM)Wtsi HOM   Early adult 3.19×10-07
abnormal gait Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 2.05×10-08
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 Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

Electrocardiogram (ECG)

Waveform Image

16 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
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria, Giant platelets, Congenital thrombocyto... ORPHA:182050
Bernard-Soulier Syndrome
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... OMIM:231200
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... OMIM:210250
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume, Hydronephrosis OMIM:300048
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Elevated circ... OMIM:617056
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Decreased... ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... OMIM:612925
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Hem... OMIM:614817
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia, Mal... OMIM:615415
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Glomerulonephr... OMIM:607665
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Ataxia, Hypospadias, Thrombocytopenia, Increased mean platelet volume,... OMIM:616737
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... OMIM:300539
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... OMIM:179800
Preeclampsia
Acute kidney injury, Proteinuria, Elevated circulating creatinine concentration, Thrombocytopenia... ORPHA:275555
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macroscopic hematuria, Giant platelets, Macrothrombocyto... ORPHA:274
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy, Neonatal death, Pulmonary hypoplasia OMIM:614096
Hypouricemia, Renal, 1
Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosis, ... OMIM:220150
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Anemia, Renal insufficiency, Hypospadias, Giant platelets, Thrombocyto... OMIM:611209
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Ataxia, Macrothrombocytopenia, Proteinuria, Th... OMIM:603585
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal biliary tract morphology, Abnormal li... ORPHA:3032
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Proteinuria, Elevated circulating cr... ORPHA:567544
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia OMIM:612736
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia OMIM:617872
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Increased serum iron, Abnormality of iron homeostasis, Galactos... OMIM:222470
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Pulmonary hypoplasia, Ventricular septal defect OMIM:615524
Lathosterolosis
Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperbilirubinemia, Hepatosp... OMIM:607330
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia OMIM:617744
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Elevated circulating creatinine concentration, Renal insufficienc... OMIM:619468
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microangiopathic hemolytic anemia, Abnormal renal physiology, Reticulo... OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... OMIM:235400
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronop... OMIM:266900
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Acute kidney injury, Neutrophilia, Hematuria, Elev... ORPHA:91547
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Neonatal death, Pulmonary hypoplasia OMIM:615228
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Anemia, Hyperuricemia, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeostasis, Polycystic kidney dyspla... ORPHA:84064
C3 Glomerulopathy
Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria, Membranoproli... ORPHA:329918
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... ORPHA:79233
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Hyperech... OMIM:208540
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration OMIM:616733
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... OMIM:123550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Thrombocytopenia, Increased mean platelet volume, Hydrone... ORPHA:487796
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypokalemia, Elevated circulating al... OMIM:613095
Diffuse Alveolar Hemorrhage
Anemia, Hematuria, Leukocytosis, Proteinuria, Elevated circulating creatinine concentration, Thro... ORPHA:90060
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... OMIM:208530
Scimitar Syndrome
Double outlet right ventricle, Mitral atresia, Pulmonary sequestration, Pneumothorax, Truncus art... ORPHA:185
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron d... OMIM:618885
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of... ORPHA:2847
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... OMIM:614376
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Recurrent respira... OMIM:618316
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Common atrium, Bi... OMIM:608978
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Anemia, Nephrotic syndrome, Nocturia, Abnormal urinary electrolyte ... ORPHA:85450
Pentalogy Of Cantrell
Abnormal pericardium morphology, Absent gallbladder, Encephalocele, Ventricular septal defect, An... ORPHA:1335
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ... OMIM:617718
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Meckel Syndrome, Type 6
Absent gallbladder, Hepatic fibrosis, Anencephaly, Pulmonary hypoplasia, Bilobed right lung, Bile... OMIM:612284
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma free carnitine, Enlarged kidney, Polycystic kidney dy... OMIM:608836
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Unconjugated hype... ORPHA:90038
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect ORPHA:139466
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Hematuria, A... OMIM:120330
Autosomal Dominant Polycystic Kidney Disease
Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephritis, Hematuria, Abnormal urinary elec... ORPHA:730
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Acute kidney injury, Normocytic anemia, Dysuria, Renal tubula... ORPHA:49041
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Neonatal death, Pulmonary hypoplasia, Stillbirth OMIM:236500
Alg3-Cdg
Decreased liver function, Cardiomyopathy, Pulmonary hypoplasia, Neural tube defect ORPHA:79321
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis OMIM:263210
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Bilateral lung agenesis, Agenesis of pulmonary ves... OMIM:601186
Oligomeganephronia
Stage 5 chronic kidney disease, Unilateral renal agenesis, Decreased numbers of nephrons, Abnorma... ORPHA:2260
Kagami-Ogata Syndrome
Splenomegaly, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect, Hepatomegaly... OMIM:608149
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Hyperlipidemia, Elevated circulating cre... ORPHA:439232
Dopamine Beta-Hydroxylase Deficiency
Anemia, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Elevated circulating ... ORPHA:230
Primary Pulmonary Hypoplasia
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Recurrent respir... ORPHA:2257
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circulating creatinin... OMIM:154230
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Pulmonary hypoplasia, Hepatomegaly, Hepa... OMIM:263200
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... ORPHA:36234
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentrati... ORPHA:247691
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Abnormal heart morphology OMIM:300978
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Pulmonary hypoplasia, Dextrocardia, Neonatal death, Transposition ... OMIM:314390
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopathy, C... OMIM:616897
Multiple Myeloma
Anemia, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypercalcemia, Elevated circulating... ORPHA:29073
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Stillbirth OMIM:256050
Thanatophoric Dysplasia
Pulmonary hypoplasia, Atrial septal defect ORPHA:2655
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Granulomatosis, G... ORPHA:93126
Congenital Tracheomalacia
Pneumothorax, Ventricular septal defect, Bronchiectasis, Single ventricle, Pulmonary hypoplasia, ... ORPHA:95430
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Stage 5 chronic kidney disease, Glycosuria, Decreased numbers of nephrons, Unilate... OMIM:137920
Truncus Arteriosus
Truncus arteriosus, Ventricular septal defect, Anomalous origin of one pulmonary artery from asce... ORPHA:3384
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect OMIM:617895
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Pulmonary hypoplasia, Hepatic steatosis, Hepatomegaly, Neonatal death, Hepatic periport... OMIM:231680
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Aortopulmonary window, Ventricula... ORPHA:99050
Pallister-Hall-Like Syndrome
Occipital encephalocele, Pulmonary hypoplasia OMIM:241800
Meckel Syndrome 14
Hepatic fibrosis, Pneumothorax, Pulmonary hypoplasia, Single ventricle, Occipital encephalocele OMIM:619879
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Anemia, Anuria, Hyperphosphatemia, Acute tubulointerstitial nephrit... ORPHA:340
Gaucher Disease, Perinatal Lethal
Hepatic failure, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Neonatal d... OMIM:608013
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia OMIM:202650
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Pulmonary hypoplasia, Ventricular septal defect, Bilateral lung agenesis OMIM:611812
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Pulmonary hypoplasia, Cardiomyopathy OMIM:616866
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Pulmonary hypoplasia, Spina bifida occulta, Dextrocardia ORPHA:2437
Mosaic Trisomy 16
Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect, Abnormal lung morphology, ... ORPHA:1708
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Ventricular septal defect, Periportal fibrosis, Anencephaly, Pulmonary hypo... OMIM:269860
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Hypoplastic heart OMIM:312150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Neonatal death, Pulmonary hypoplasia OMIM:224410
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Bronchiectasis, Rec... ORPHA:980
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Thoracoabdominal Syndrome
Transposition of the great arteries, Anencephaly, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Pulmonary hypoplasia, Overriding aorta, Ventricular septal defect OMIM:617022
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Hypoplastic heart OMIM:253290
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmonary hypoplasia, Abnormal lu... ORPHA:2470
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia, Ventricular septal defect, Atrial septal defect OMIM:145420
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Atelectasis, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Accessor... OMIM:613177
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida, Pulmonary hypoplasia, Abnormality of the pulmonary arte... ORPHA:991
Marburg Hemorrhagic Fever
Leukopenia, Renal insufficiency, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating ... ORPHA:99826
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Decreased retinol-bind... ORPHA:449395
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Encephalocele, Abnormal heart morphology ORPHA:1865
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pulmonary hypoplasia, Pancreatic fibrosis, Hepatomegaly, Extrapulm... OMIM:200995
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia, Ventricular septal defect OMIM:612530
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... ORPHA:731
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly, Left ventricular hypertrophy, Pulmonary hypoplasia, Pulmonic stenosis OMIM:619148
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... ORPHA:99125
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Pulmonary hypoplasia, Stillbirth, Single ventricle, Umbilical... OMIM:308050
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Alg9-Cdg
Ventricular septal defect, Periportal fibrosis, Pericardial effusion, Abnormal left ventricular o... ORPHA:79328
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia, Hepatic agenesis, Ventricular septal defect ORPHA:1692
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Pulmonary hypoplasia, Intrahepatic biliary dysgenesis, Hepatomegaly, P... OMIM:214100
Distal Tetrasomy 15Q
Pulmonary hypoplasia, Abnormal heart morphology, Atrial septal defect ORPHA:314588
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Pulmonary hypoplasia, Atrial septal defect OMIM:616546
Greenberg Dysplasia
Abnormal lung lobation, Pulmonary hypoplasia, Pancreatic islet-cell hyperplasia, Hepatosplenomega... OMIM:215140
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Abnormal aortic valve morphology, Pulmonary hypoplasia, Umbilical hernia ORPHA:2990
Yellow Fever
Anuria, Renal insufficiency, Acute kidney injury, Hyperbilirubinemia, Neutrophilia, Elevated circ... ORPHA:99829
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Jaundice, Pulmonary hypoplasia, Polycystic liver disease, Bil... OMIM:208500
Renal Agenesis
Pulmonary hypoplasia, Ventricular septal defect ORPHA:411709
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect, Pancreat... OMIM:263520
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Aminoaciduria, Reduced hematocrit, Beta 2-microglobulinuria, Normoc... ORPHA:91500
Diaphanospondylodysostosis
Abnormal liver lobulation, Pulmonary hypoplasia OMIM:608022
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Stillbirth OMIM:151210
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Ogden Syndrome
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Pulmonary edem... OMIM:300855
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary window, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary artery hypoplas... OMIM:620025
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Otopalatodigital Syndrome Type 2
Myelomeningocele, Encephalocele, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Abnorm... ORPHA:90652
Caudal Regression Syndrome
Arrhinencephaly, Pulmonary hypoplasia ORPHA:3027
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Pulmonary hypoplasia, Tetralogy of Fallot, Complete atrioventricular canal de... OMIM:617925
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Genitopatellar Syndrome
Pulmonary hypoplasia, Atrial septal defect ORPHA:85201
Fryns Syndrome
Ventricular septal defect, Arrhinencephaly, Polysplenia, Pulmonary hypoplasia, Atrial septal defe... OMIM:229850
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Neu-Laxova Syndrome 1
Patent foramen ovale, Ventricular septal defect, Spina bifida, Short umbilical cord, Pulmonary hy... OMIM:256520
Meier-Gorlin Syndrome 7
Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect, Complete atrioventricular ... OMIM:617063
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Fryns Syndrome
Tetralogy of Fallot, Pulmonary hypoplasia, Abnormal cardiac septum morphology ORPHA:2059
Meckel Syndrome, Type 1
Asplenia, Abnormal cardiac septum morphology, Anencephaly, Pulmonary hypoplasia, Malformation of ... OMIM:249000
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Pulmonary hypoplasia ORPHA:1190
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia, Atrial septal defect OMIM:614080
Renal Agenesis, Bilateral
Sirenomelia, Pulmonary hypoplasia ORPHA:1848
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Pulmonary hypoplasia OMIM:616503
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Pulmonary hypoplasia, Stillbirth OMIM:616300
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Stillbirth OMIM:200600
Esophageal Atresia
Bronchitis, Ventricular septal defect, Recurrent respiratory infections, Pulmonary hypoplasia, Te... ORPHA:1199
Restrictive Dermopathy 1
Short umbilical cord, Hydropic placenta, Pulmonary hypoplasia, Atrial septal defect, Stillbirth, ... OMIM:275210
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Bicuspid aortic valve, Left ventricular hypertrophy... OMIM:612289
Tarp Syndrome
Tetralogy of Fallot, Pulmonary hypoplasia, Atrial septal defect ORPHA:2886
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Pulmonary hypoplasia, Bronchiectasis OMIM:619708
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect, Hepatob... ORPHA:96334
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse, Repeated pneumothoraces, Pulmonary hypoplasia, Atelectasis ORPHA:536467
Tetrasomy 9P
Absent gallbladder, Patent foramen ovale, Biliary atresia, Abnormal cardiac septum morphology, Ab... ORPHA:3310
Neu-Laxova Syndrome
Spina bifida, Pulmonary hypoplasia ORPHA:2671
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormality of the gallbladder, Abnorma... ORPHA:818
Smith-Lemli-Opitz Syndrome
Cirrhosis, Ventricular septal defect, Abnormal lung lobation, Pulmonary hypoplasia, Atrial septal... OMIM:270400
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Atrial septal defect, Aortic valve stenosis, Abnormal he... ORPHA:536471
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Perimembranous ventricular septal defect, Pulmonary h... ORPHA:83617
Distal Monosomy 15Q
Mitral atresia, Double outlet right ventricle with doubly committed ventricular septal defect and... ORPHA:1596
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Restrictive Dermopathy
Short umbilical cord, Pulmonary hypoplasia, Atrial septal defect, Dextrocardia, Large placenta, S... ORPHA:1662
Biliary, Renal, Neurologic, And Skeletal Syndrome
Stage 5 chronic kidney disease, Hyperbilirubinemia, Medullary nephrocalcinosis, Increased circula... OMIM:619534
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia, Umbilical hernia OMIM:265000
Joubert Syndrome 21
Occipital encephalocele, Pulmonary hypoplasia OMIM:615636
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Schinzel-Giedion Syndrome
Neural tube defect, Pulmonary hypoplasia, Hepatoblastoma, Recurrent pneumonia, Abnormal heart mor... ORPHA:798
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Pulmonary hypoplasia ORPHA:3412
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Small placenta, Pulmonary hypoplasia, Stillbirth OMIM:208150
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia, Ventricular septal defect, Atrial septal defect ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Osteogenesis Imperfecta
Mitral valve prolapse, Abnormal endocardium morphology, Pulmonary hypoplasia, Umbilical hernia ORPHA:666
Dpagt1-Cdg
Elevated hepatic transaminase, Pulmonary hypoplasia, Hepatomegaly ORPHA:86309
Fraser Syndrome 1
Pulmonary hypoplasia, Myelomeningocele, Encephalocele, Abnormal heart morphology OMIM:219000
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Asplenia OMIM:273395
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:2753
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Fraser Syndrome
Myelomeningocele, Encephalocele, Abnormal lung lobation, Pulmonary hypoplasia, Umbilical hernia ORPHA:2052
Genitopatellar Syndrome
Pulmonary hypoplasia, Ventricular septal defect, Atrial septal defect OMIM:606170
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Pallister-Killian Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defect, Hypertrophic cardiomyopath... OMIM:601803
Craniofacial Microsomia
Branchial anomaly, Ventricular septal defect, Pulmonary hypoplasia, Occipital encephalocele, Tetr... OMIM:164210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia, Congenital hepatic fibrosis 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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