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 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
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
abnormal kidney morphology Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Pbrm1tm1b(EUCOMM)Wtsi HOM   Early adult 3.19×10-07

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.

Electrocardiogram (ECG)

Waveform Image

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... OMIM:210250
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Pulmonary hypoplasia, Ventricular septal defect OMIM:615524
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly, Neonatal death OMIM:614096
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal... ORPHA:3032
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Ataxia, Hypospadias, Increased mean ... OMIM:616737
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Ataxia OMIM:612736
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Proteinu... ORPHA:567544
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Elevated circulating creatinine concentration, Uroli... OMIM:220150
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macroscopic hematuria, Impaired ristoce... ORPHA:274
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Renal insufficiency, Hydronephrosis, Thrombocytopenia, Anemia, Hypospadias, Hemo... OMIM:611209
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Sple... OMIM:222470
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Ataxia, Decreased platelet glycoprotein Ib, Proteinuria, Neutropenia, Thrombocytop... OMIM:603585
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen OMIM:617872
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death OMIM:615228
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con... OMIM:274150
Relapsing Fever
Acute kidney injury, Increased total bilirubin, Elevated circulating creatinine concentration, Le... ORPHA:91547
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Cardiomyopathy, Neonatal death OMIM:619003
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:235400
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Elevated circulating creatinine concentrati... OMIM:174000
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Nephronophthisis 2
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:602088
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Stage... ORPHA:329918
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Syndromic Diarrhea
Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormalit... ORPHA:84064
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Anemia, Hyperkalemia OMIM:620366
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Scimitar Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Bronchogenic cyst, Abn... ORPHA:185
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop... ORPHA:90060
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... ORPHA:487796
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:613095
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholestero... OMIM:618885
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Right Atrial Isomerism
Total anomalous pulmonary venous return, Pulmonary artery atresia, Polysplenia, Abnormal lung lob... OMIM:208530
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia OMIM:608104
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Scimitar anomaly, Congenital alveo... OMIM:608978
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Agenesis of pulmonary vessels, Tetralogy of Fallo... OMIM:601186
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia, Neonatal death OMIM:245650
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc... ORPHA:1335
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Meckel Syndrome, Type 6
Hepatic fibrosis, Pulmonary hypoplasia, Occipital encephalocele, Absent gallbladder, Hepatic cyst... OMIM:612284
Serkal Syndrome
Pulmonary hypoplasia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,... ORPHA:85450
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Alg3-Cdg
Cardiomyopathy, Decreased liver function, Neural tube defect, Pulmonary hypoplasia ORPHA:79321
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Elevated circulating creatini... ORPHA:730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased... OMIM:617718
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... ORPHA:49041
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Kagami-Ogata Syndrome
Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Pulmonic stenosis, P... OMIM:608149
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia, Hydranencephaly, Stillbirth, Neonatal death OMIM:236500
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Pulmonary hypoplasia OMIM:300978
Aapoaiv Amyloidosis
Chronic kidney disease, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuri... ORPHA:439232
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Pulmonary... OMIM:616897
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... OMIM:263200
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lympho... OMIM:301000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Transposition of the great arteries, Dextrocardia,... OMIM:314390
Oligomeganephronia
Unilateral renal agenesis, Bilateral renal hypoplasia, Elevated circulating creatinine concentrat... ORPHA:2260
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... ORPHA:95430
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death OMIM:253310
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Stillbirth OMIM:256050
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Ventricular septal defect, Pul... OMIM:611812
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
46,Xy Sex Reversal 4
Hydronephrosis, Elevated circulating creatinine concentration, Ureteropelvic junction obstruction... OMIM:154230
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Normocytic anemia, Elevated circulating creatinine concentration, Proteinuria, Glome... ORPHA:247691
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... ORPHA:542323
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Hypocalcemia... ORPHA:36234
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall... ORPHA:3384
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice, Pulmonary... OMIM:231680
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect OMIM:617895
Pallister-Hall-Like Syndrome
Occipital encephalocele, Pulmonary hypoplasia OMIM:241800
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy, Pulmonary hypoplasia OMIM:616866
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Tetralogy of Fallot, Anomalous origin of left pulmo... ORPHA:99050
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, An... ORPHA:29073
Meckel Syndrome 14
Hepatic fibrosis, Occipital encephalocele, Pneumothorax, Single ventricle, Pulmonary hypoplasia OMIM:619879
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Hepatomegaly, Pu... OMIM:608013
Mosaic Trisomy 16
Abnormal heart morphology, Large placenta, Ventricular septal defect, Atrial septal defect, Abnor... ORPHA:1708
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Dextrocardia, Spina bifida occulta, Pulmonary hypoplasia ORPHA:2437
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Atelectasis, Splenomegaly, Patent foramen ovale, Ventricular septal defect, ... OMIM:269860
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Occipital encephalocele, Neonatal death OMIM:224410
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu... ORPHA:980
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:145420
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Pulmonary hypoplasia, Ventricular septal defect OMIM:617022
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Anencephaly, Ectopia cordis, Transposition of the great arteries OMIM:313850
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Matthew-Wood Syndrome
Annular pancreas, Abnormal spleen morphology, Abnormal lung morphology, Aplasia/Hypoplasia of the... ORPHA:2470
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Umbilic... OMIM:613177
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Encephalocele, Pulmonary hypoplasia ORPHA:1865
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Extrapulmonary lobar sequestrat... OMIM:200995
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia, Ventricular septal defect OMIM:612530
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Spontaneous pneumothorax, Recurrent pneumonia, Cholestasis... ORPHA:731
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Left ventricular hypertrophy, Anencephaly, Pulmonic stenosis, Pulmonary hypoplasia OMIM:619148
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Umbilical hernia, Abnormal cardiac septum morphology, Single ventricle, Pulmonary hyp... OMIM:308050
Alg9-Cdg
Periportal fibrosis, Abnormal lung lobation, Abnormal heart morphology, Hepatic cysts, Ventricula... ORPHA:79328
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia, Neonatal death OMIM:187600
Mosaic Trisomy 1
Hepatic agenesis, Pulmonary hypoplasia, Pulmonary artery atresia, Ventricular septal defect ORPHA:1692
Distal Triplication 15Q
Abnormal heart morphology, Atrial septal defect, Pulmonary hypoplasia ORPHA:314588
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Prolonged neonatal jaundice, Hepatomegaly, Intrahepatic biliary dysgen... OMIM:214100
Greenberg Dysplasia
Abnormal lung lobation, Hepatosplenomegaly, Large placenta, Pancreatic islet-cell hyperplasia, Ne... OMIM:215140
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Pulmonary hypoplasia, Abnormal aortic valve morphology, Umbilical hernia ORPHA:2990
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Recurrent respiratory i... OMIM:208500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Diaphanospondylodysostosis
Pulmonary hypoplasia, Abnormal liver lobulation OMIM:608022
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Patent foramen ovale, ... OMIM:620371
Renal Agenesis
Pulmonary hypoplasia, Ventricular septal defect ORPHA:411709
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Stillbirth OMIM:151210
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Ventricular septal defect, Atrial septal defect, Pancreatic fibrosis, Pulmonary... OMIM:263520
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Umbilical hernia, Patent for... OMIM:300855
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Ventricular septal defect, Aortopulmonary window, Hepatomegaly, Pulm... OMIM:620025
Otopalatodigital Syndrome Type 2
Myelomeningocele, Abnormal heart valve morphology, Encephalocele, Abnormal cardiac septum morphol... ORPHA:90652
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating ... ORPHA:91500
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Atrial septal defect, Occipital meningocele, Pulmonary hypoplasia OMIM:616546
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Short umbilical cord, Patent foramen ovale, Ventricular septal d... OMIM:256520
Yellow Fever
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R... ORPHA:99829
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Neonatal death, ... OMIM:617925
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Ventricular septal defect, Meconium peritonitis, Atrial s... OMIM:617063
Fryns Syndrome
Tetralogy of Fallot, Abnormal cardiac septum morphology, Pulmonary hypoplasia ORPHA:2059
Atelosteogenesis Type I
Pulmonary hypoplasia, Abnormal pancreatic duct morphology ORPHA:1190
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Neonatal death OMIM:251230
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Occipital encephalocele, Large placen... OMIM:249000
Fryns Syndrome
Chylothorax, Polysplenia, Ventricular septal defect, Atrial septal defect, Stillbirth, Ectopic pa... OMIM:229850
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Pulmonary hypoplasia OMIM:614080
Esophageal Atresia
Bronchitis, Tetralogy of Fallot, Ventricular septal defect, Recurrent respiratory infections, Pul... ORPHA:1199
Renal Agenesis, Bilateral
Sirenomelia, Pulmonary hypoplasia ORPHA:1848
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Encephalocele, Stillbirth OMIM:616300
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Stillbirth OMIM:200600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Repeated pneumothoraces, Mitral valve prolapse, Pulmonary hypoplasia ORPHA:536467
Restrictive Dermopathy 1
Hydropic placenta, Short umbilical cord, Neonatal death, Atrial septal defect, Stillbirth, Pulmon... OMIM:275210
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Fontaine Progeroid Syndrome
Umbilical hernia, Abnormal heart morphology, Neonatal death, Bicuspid aortic valve, Left ventricu... OMIM:612289
Tetrasomy 9P
Pulmonary hypoplasia, Umbilical hernia, Absent gallbladder, Abnormal mitral valve morphology, Pat... ORPHA:3310
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Distal Deletion 15Q
Hypoplastic left heart, Double outlet right ventricle with doubly committed ventricular septal de... ORPHA:1596
Neu-Laxova Syndrome
Spina bifida, Pulmonary hypoplasia ORPHA:2671
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Large placenta, Ventricular s... ORPHA:96334
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormality of the gallbladder, Ventricula... ORPHA:818
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Atrial septal defect, Pulmonic stenosis, ... ORPHA:536471
Tarp Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary hypoplasia ORPHA:2886
Restrictive Dermopathy
Small placenta, Large placenta, Short umbilical cord, Transposition of the great arteries, Atrial... ORPHA:1662
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Abnormal lung lobation, Hypertrophic cardiomyopathy, Hepatic steatosis... OMIM:270400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Perimembranous ventricular septal def... ORPHA:83617
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Raine Syndrome
Pulmonary hypoplasia, Neonatal death OMIM:259775
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia, Umbilical hernia OMIM:265000
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Umbilical hernia, Abnormal heart morphology, Hepatoblastom... ORPHA:798
Fetal Akinesia Deformation Sequence 1
Small placenta, Pulmonary hypoplasia, Short umbilical cord, Stillbirth OMIM:208150
Vacterl With Hydrocephalus
Spina bifida, Pulmonary hypoplasia ORPHA:3412
Joubert Syndrome 21
Splenomegaly, Occipital encephalocele, Encephalocele, Pulmonary hypoplasia OMIM:615636
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Pulmonary hypoplasia OMIM:616503
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Penile Agenesis
Pulmonary hypoplasia, Bilateral lung agenesis, Atrial septal defect, Ventricular septal defect ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Pulmonary hypoplasia OMIM:619351
Osteogenesis Imperfecta
Pulmonary hypoplasia, Abnormal endocardium morphology, Mitral valve prolapse, Umbilical hernia ORPHA:666
Dpagt1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary hypoplasia ORPHA:86309
Fraser Syndrome 1
Myelomeningocele, Encephalocele, Abnormal heart morphology, Pulmonary hypoplasia OMIM:219000
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:2753
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Fraser Syndrome
Abnormal lung lobation, Myelomeningocele, Umbilical hernia, Encephalocele, Pulmonary hypoplasia ORPHA:2052
Genitopatellar Syndrome
Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:606170
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Pallister-Killian Syndrome
Aortic valve stenosis, Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect, ... OMIM:601803
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, 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

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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