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Gene: Pbrm1 MGI:1923998

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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
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
increased mean platelet volume Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 1.25×10-07

Download data as:  TSV  XLS

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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

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Electrocardiogram (ECG)

Waveform Image

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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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
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... OMIM:210250
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Takenouchi-Kosaki Syndrome
Hypospadias, Ataxia, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, T... OMIM:616737
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Preeclampsia
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Acute kidney ... ORPHA:275555
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia OMIM:612736
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Macroscopic hema... ORPHA:274
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Hydronephro... OMIM:611209
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycop... OMIM:603585
Idiopathic Non-Lupus Full-House Nephropathy
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... ORPHA:567544
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Trichohepatoenteric Syndrome 1
Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia,... OMIM:222470
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Horseshoe ki... OMIM:607330
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Stage 5 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:619468
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre... OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin... OMIM:266900
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... ORPHA:91547
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... OMIM:174000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the thymus, Abnorma... ORPHA:84064
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati... ORPHA:329918
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... ORPHA:487796
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... ORPHA:90060
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Elevated circulating c... OMIM:613095
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Scimitar Syndrome
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... ORPHA:185
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis... OMIM:208530
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ... OMIM:618885
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary hypoplasia, Pulmonary sequestration, ... ORPHA:2847
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va... OMIM:618316
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Agenesis of pulmonary vessels, Hypoplastic left at... OMIM:601186
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... OMIM:617718
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An... ORPHA:1335
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Bilobed right lung, Anencephaly, Cystic liver diseas... OMIM:612284
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo... OMIM:608836
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... OMIM:120330
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Chronic kidney disease, Elevated circulating creatinine concentration, Stage... ORPHA:730
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology OMIM:263210
Alg3-Cdg
Neural tube defect, Pulmonary hypoplasia, Decreased liver function, Cardiomyopathy ORPHA:79321
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Bilateral renal hypoplasia, Elevated... ORPHA:2260
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney disease, Elevated ... ORPHA:439232
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonary hypoplasia, Pulmonic stenosis, A... OMIM:608149
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Increased... ORPHA:230
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... ORPHA:2257
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Stillbirth, Pulmonary hypoplasia, Neonatal death OMIM:236500
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Normochromic anemi... ORPHA:247691
46,Xy Sex Reversal 4
Ureteropelvic junction obstruction, Elevated circulating creatinine concentration, Hydronephrosis... OMIM:154230
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Elev... ORPHA:36234
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Abnormal heart morphology OMIM:300978
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries, Neonatal death, Atrioven... OMIM:314390
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Nephrotic syndrome, H... ORPHA:29073
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... OMIM:616897
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia OMIM:256050
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... ORPHA:93126
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio... OMIM:137920
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Truncus Arteriosus
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... ORPHA:3384
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... ORPHA:95430
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic periportal necrosis, Hepati... OMIM:231680
Pallister-Hall-Like Syndrome
Occipital encephalocele, Pulmonary hypoplasia OMIM:241800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... ORPHA:99050
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis OMIM:202650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Meckel Syndrome 14
Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Single ventricle OMIM:619879
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Pulmonary hypoplasia OMIM:616866
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Elevated circulati... ORPHA:340
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Abnormal lung morphology, Abnormal heart morphology, P... ORPHA:1708
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Neonatal deat... OMIM:608013
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Pulmonary hypoplasia, Spina bifida occulta ORPHA:2437
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Anencephaly, Periportal fibro... OMIM:269860
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia OMIM:224410
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Hypoplastic heart OMIM:312150
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... ORPHA:980
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly OMIM:617022
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Anencephaly, Transposition of the great arteries OMIM:313850
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Hypoplastic heart OMIM:253290
Matthew-Wood Syndrome
Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmona... ORPHA:2470
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Eosinophilia, Elevated circulating C-reactive protein concentra... ORPHA:449395
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical hernia, Emphy... OMIM:613177
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Pulm... ORPHA:991
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentra... ORPHA:99826
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:1865
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... OMIM:200995
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas... ORPHA:731
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly, Pulmonary hypoplasia, Pulmonic stenosis, Left ventricular hypertrophy OMIM:619148
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Umbilical hernia, Single ve... OMIM:308050
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Marden-Walker Syndrome
Pulmonary hypoplasia, Dextrocardia OMIM:248700
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect... ORPHA:99125
Alg9-Cdg
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Abnormal h... ORPHA:79328
Mosaic Trisomy 1
Pulmonary artery atresia, Hepatic agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:1692
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, P... OMIM:214100
Distal Triplication 15Q
Atrial septal defect, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:314588
Greenberg Dysplasia
Hepatomegaly, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, ... OMIM:215140
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Autosomal Recessive Multiple Pterygium Syndrome
Umbilical hernia, Spina bifida occulta, Abnormal aortic valve morphology, Pulmonary hypoplasia ORPHA:2990
Yellow Fever
Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Le... ORPHA:99829
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Atrial se... OMIM:263520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Diaphanospondylodysostosis
Abnormal liver lobulation, Pulmonary hypoplasia OMIM:608022
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary window, Pulmonary artery hypoplasia, Pulm... OMIM:620025
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Abnormal cardiac septum morphol... ORPHA:90652
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Anencephaly, Pulmonary hypoplasia OMIM:616546
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Transp... OMIM:256520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,... OMIM:617925
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Meier-Gorlin Syndrome 7
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary hypoplasia, Atrial s... OMIM:617063
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La... OMIM:249000
Fryns Syndrome
Abnormal cardiac septum morphology, Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:2059
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Pulmonary hypoplasia ORPHA:1190
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Stillbirth, Pulmonary hypoplasia, Polysplen... OMIM:229850
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
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Sirenomelia ORPHA:1848
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Stillbirth, Pulmonary hypoplasia OMIM:616300
Esophageal Atresia
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pulmonary hypoplasia, Te... ORPHA:1199
Restrictive Dermopathy 1
Hydropic placenta, Stillbirth, Short umbilical cord, Neonatal death, Pulmonary hypoplasia, Atrial... OMIM:275210
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Tetrasomy 9P
Absent gallbladder, Pericarditis, Dextrocardia, Jaundice, Biliary atresia, Abnormal cardiac septu... ORPHA:3310
Fontaine Progeroid Syndrome
Atrial septal defect, Bicuspid aortic valve, Pneumothorax, Abnormal heart morphology, Neonatal de... OMIM:612289
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces, Mitral valve prolapse ORPHA:536467
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Large placenta, Pulmonary artery s... ORPHA:96334
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Restrictive Dermopathy
Dextrocardia, Large placenta, Transposition of the great arteries, Short umbilical cord, Small pl... ORPHA:1662
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:2886
Neu-Laxova Syndrome
Pulmonary hypoplasia, Spina bifida ORPHA:2671
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Abnormal lung lobation, Cholestatic liver ... OMIM:270400
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormality of the gallbladder, Abnormal lung lobation, Pulmonary hypo... ORPHA:818
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Biliary hyperplasia, Perimembranous ventricular septal defect, Pulmonary hypoplasia... ORPHA:83617
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal defect, A... ORPHA:536471
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Multiple Pterygium Syndrome, Escobar Variant
Umbilical hernia, Pulmonary hypoplasia OMIM:265000
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Schinzel-Giedion Syndrome
Recurrent pneumonia, Abnormal heart morphology, Neural tube defect, Pulmonary hypoplasia, Hepatob... ORPHA:798
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulati... OMIM:619534
Fetal Akinesia Deformation Sequence 1
Stillbirth, Pulmonary hypoplasia, Short umbilical cord, Small placenta OMIM:208150
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia, Splenomegaly OMIM:615636
Vacterl With Hydrocephalus
Pulmonary hypoplasia, Spina bifida ORPHA:3412
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Short umbilical cord OMIM:616503
Penile Agenesis
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Osteogenesis Imperfecta
Abnormal endocardium morphology, Umbilical hernia, Pulmonary hypoplasia, Mitral valve prolapse ORPHA:666
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Pulmonary hypoplasia, Abnormal heart morphology OMIM:219000
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Pulmonary hypoplasia ORPHA:86309
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:2753
Fraser Syndrome
Encephalocele, Myelomeningocele, Abnormal lung lobation, Pulmonary hypoplasia, Umbilical hernia ORPHA:2052
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia 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, Hypertrophic cardiomyopathy, Stillbirth, Pulmonary hypoplasia, Atrial ... OMIM:601803
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Branchial anomaly, Pulmonary hypoplasia, Tetr... 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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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