Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 0.00
increased mean platelet volume Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 1.23×10-07
preweaning lethality, complete penetrance Pbrm1tm1b(EUCOMM)Wtsi HOM   Early adult 3.19×10-07
decreased prepulse inhibition Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 2.24×10-05
abnormal gait Pbrm1tm1b(EUCOMM)Wtsi HET Early adult 2.19×10-08
decreased circulating creatinine level Pbrm1tm1b(EUCOMM)Wtsi HET   Early adult 7.92×10-05

Download data as:  TSV  XLS

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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

Human diseases caused by Pbrm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pbrm1 by orthology or direct annotation.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Nephropathy, Giant platelets, Renal ... ORPHA:182050
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Stage 5 chronic kidney ... OMIM:153640
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612926
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Dystonia, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinin... ORPHA:79233
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Cholestasis, Hepatic fibrosis, Pulmonic s... OMIM:615415
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... OMIM:607665
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Increased mean platelet volume, Ataxia, Thrombocytopenia, Hydronephros... OMIM:616737
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Thrombocytopenia, Chronic kid... ORPHA:275555
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... OMIM:615524
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Glomerulonephritis, Microscop... ORPHA:567544
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Ataxia, Macrothrombocytopenia, Thrombocytopenia, Aminoaciduria, Decreased platelet g... OMIM:603585
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal biliary tract morphology, Abnormal li... ORPHA:3032
Bernard-Soulier Syndrome
Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macroscopic hematuria, G... ORPHA:274
Lathosterolosis
Horseshoe kidney, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Increased m... OMIM:607330
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Acute kidney injury, Reticulocy... OMIM:235400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Renal hypoplasia, Lymphopenia, Increased mean pl... ORPHA:84064
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Leukocytosis, Elevated circulating cre... ORPHA:91547
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration OMIM:616733
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Aphalangy With Hemivertebrae
Pulmonary hypoplasia, Ventricular septal defect OMIM:207620
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Elevated circulating creatinine concentration, Polycystic kidney dysplasia, ... OMIM:613095
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Laryngomalacia OMIM:245650
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Wide nasal bridge, Pulmona... OMIM:618316
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Accessory spleen, Ventricular septal defect, Dysplastic t... OMIM:618280
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis,... OMIM:208540
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Increased mean platelet volume, Thrombocytopenia, Hydronephrosis, Hypo... ORPHA:487796
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Diffuse Alveolar Hemorrhage
Hematuria, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia, Anemia,... ORPHA:90060
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Nephropath... OMIM:600903
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Anteverted nares OMIM:613124
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Short nose, Abnormal heart morphology, Depressed nasal bridge OMIM:241800
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Wide nasal bridge OMIM:224410
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... ORPHA:2847
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Neonatal death, Pulmonary hyp... OMIM:263200
Scimitar Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Abnormal lung morphology, Truncus art... ORPHA:185
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Laryngomalacia, Hepatomegaly, Pulmonic stenosis,... OMIM:608149
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Urinary incontinence, Decreased serum creatinine, De... OMIM:618885
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Acute kidney injury, Reticulocytosis, Leukocytosis, Elevated c... ORPHA:90038
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Increased blood urea nitrogen, Acute kidney inju... ORPHA:49041
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect ORPHA:139466
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Neonatal death, Pulmonary hypoplasia, Anteverted nares OMIM:236500
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Hypoplasti... OMIM:601186
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Wide nasal bridge, Pulmonary hypoplasia, Prominent nasal bridge, Promi... OMIM:300978
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Abnormal heart morphology, Periportal fibrosis, Pulmonary hypoplasia, ... OMIM:263210
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Nocturia, Elevated circulating creatini... ORPHA:230
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Stillbirth, Depressed nasal bridge OMIM:256050
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Ventricular septal defect, Pleural effusion, Wide nasal bridge, Pulmonary hypoplasia,... OMIM:616897
Oligomeganephronia
Decreased numbers of nephrons, Elevated circulating creatinine concentration, Unilateral renal ag... ORPHA:2260
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Glomerular sclerosis, Nephropathy, Normocytic anem... ORPHA:247691
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia, Depressed nasal bridge ORPHA:2655
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Polysplenia, Abnormal perica... ORPHA:1335
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic kidney disease, Abno... ORPHA:439232
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Umbilical hernia, Pulmonary hypopla... OMIM:613177
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... ORPHA:2257
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Jaundice, Neonatal death, Pulmonary hypoplasia, Depressed nasal ... OMIM:231680
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Depressed nasal bridge OMIM:617895
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute ... ORPHA:542323
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Renal hypoplasia, Elevated circulating creatinine concentration, U... OMIM:137920
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Hyperproteinemia, Nephropathy... ORPHA:29073
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Pulmonary hypoplasia, Cardiomegaly, Ventricular septal defect OMIM:617022
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease OMIM:612284
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Elevated circulating creatinine concentration, ... ORPHA:93126
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Single ventricle, Stillbirth, Umbilical hernia, Pulmonary hypoplasia, Abnormal cardiac septum mor... OMIM:308050
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Pulmonary hypoplasia, Spina bifida occulta, Myelomeningocele, Tracheo... ORPHA:2437
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Pancreatic fibrosis, Depressed nasal bridge OMIM:615503
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Anteverted nares OMIM:601163
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary hypoplasia, Pulmonary artery stenosis, Bilateral lung agenesis OMIM:611812
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Mosaic Trisomy 16
Atrial septal defect, Abnormal lung morphology, Ventricular septal defect, Abnormal heart morphol... ORPHA:1708
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Minicore Myopathy With External Ophthalmoplegia
Pulmonary hypoplasia, Recurrent respiratory infections OMIM:255320
Matthew-Wood Syndrome
Abnormal lung morphology, Abnormal spleen morphology, Pulmonary hypoplasia, Aplasia/Hypoplasia of... ORPHA:2470
Greenberg Dysplasia
Tracheal calcification, Stillbirth, Pleural effusion, Hepatomegaly, Hepatic calcification, Laryng... OMIM:215140
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Acrocephalopolydactylous Dysplasia
Short nose, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Pulmonary hypoplasi... OMIM:200995
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary a... ORPHA:1692
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Diaphanospondylodysostosis
Short nose, Tracheomalacia, Abnormal liver lobulation, Pulmonary hypoplasia, Depressed nasal bridge OMIM:608022
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Secundum atrial septal defect, Pulmonary hypoplasia, Cardiomyopathy OMIM:616866
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Prolonged neonatal jaun... OMIM:214100
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis... ORPHA:731
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Choanal ... OMIM:617063
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Pagod Syndrome
Spina bifida, Situs inversus totalis, Pulmonary artery hypoplasia, Meningocele, Pulmonary hypopla... ORPHA:991
Opitz Gbbb Syndrome, Type Ii
Atrial septal defect, Ventricular septal defect, Laryngeal cleft, Umbilical hernia, Wide nasal br... OMIM:145410
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia, Anteverted nares OMIM:248700
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Depressed nasal bridge ORPHA:250999
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Pancreatic fibrosis, ... OMIM:263520
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Periportal fibrosis, Atelectasis, Hepatomegaly, Neonatal death, Pulmon... OMIM:269860
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Laryngeal hypoplasia, Absent gallbladder, Complete atrioventricular canal de... OMIM:617925
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia, Prominent nasal bridge, Wide nose, Prominent nose ORPHA:85201
Odontochondrodysplasia 1
Pulmonary hypoplasia, Recurrent respiratory infections OMIM:184260
Chromosome 13Q33-Q34 Deletion Syndrome
Choanal atresia, Wide nasal bridge, Pulmonic stenosis, Pulmonary hypoplasia, Left ventricular hyp... OMIM:619148
Otopalatodigital Syndrome Type 2
Short nose, Abnormal heart valve morphology, Hypoplastic frontal sinuses, Pulmonary hypoplasia, A... ORPHA:90652
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Depressed nasal bridge ORPHA:85166
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Abnormal heart morphology, Wide nasal bridge ORPHA:1865
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Pulm... OMIM:208500
Esophageal Atresia
Abnormal respiratory system morphology, Laryngotracheomalacia, Ventricular septal defect, Choanal... ORPHA:1199
Autosomal Recessive Multiple Pterygium Syndrome
Umbilical hernia, Pulmonary hypoplasia, Abnormal aortic valve morphology, Spina bifida occulta ORPHA:2990
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Pulmonary hypoplasia, Anteverted nares, Depressed nasal bridge OMIM:616503
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:256520
Renal Agenesis
Pulmonary hypoplasia, Ventricular septal defect ORPHA:411709
Distal Tetrasomy 15Q
Atrial septal defect, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:314588
Atelosteogenesis Type I
Laryngotracheal stenosis, Pulmonary hypoplasia, Abnormal pancreatic duct morphology, Laryngeal st... ORPHA:1190
Tubulointerstitial Nephritis And Uveitis Syndrome
Mild proteinuria, Renal tubular epithelial necrosis, Reduced hematocrit, Elevated circulating cre... ORPHA:91500
Meckel Syndrome, Type 1
Accessory spleen, Abnormality of the larynx, Large placenta, Malformation of the hepatic ductal p... OMIM:249000
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia, Depressed nasal bridge ORPHA:994
Thoracoabdominal Syndrome
Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries OMIM:313850
Renal Agenesis, Bilateral
Sirenomelia, Pulmonary hypoplasia, Tracheoesophageal fistula ORPHA:1848
Tetrasomy 5P
Short nose, Wide nasal bridge, Pulmonary hypoplasia, Anteverted nares, Recurrent respiratory infe... ORPHA:3309
Restrictive Dermopathy, Lethal
Atrial septal defect, Short umbilical cord, Stillbirth, Choanal atresia, Hydropic placenta, Pulmo... OMIM:275210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Short nose, Pulmonary hypoplasia, Anteverted nares, Depressed nasal bridge OMIM:614080
Fryns Syndrome
Wide nasal bridge, Pulmonary hypoplasia, Tetralogy of Fallot, Abnormal cardiac septum morphology,... ORPHA:2059
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia, Depressed nasal bridge OMIM:616546
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Hemifacial Microsomia
Tetralogy of Fallot, Pulmonary hypoplasia, Branchial anomaly, Ventricular septal defect OMIM:164210
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Wide nose OMIM:251230
Raine Syndrome
Short nose, Choanal atresia, Neonatal death, Pulmonary hypoplasia, Depressed nasal bridge OMIM:259775
Fryns Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect, Polysplenia, Wide nasal bridge, Ecto... OMIM:229850
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Ventricular septal defect, Large placenta, Spinal dysraphism, Hepatoblastom... ORPHA:96334
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal lung lobation ORPHA:958
Stuve-Wiedemann Syndrome
Pulmonary hypoplasia, Short nose, Pulmonary arterial medial hypertrophy OMIM:601559
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Underdeveloped nasal alae, Cholelithiasis, Wide nasal bridge, Hepatomegaly, Perimembranous ventri... ORPHA:83617
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Choanal atresia, Wide... ORPHA:818
Fontaine Progeroid Syndrome
Atrial septal defect, Short nose, Abnormal heart morphology, Umbilical hernia, Neonatal death, Pu... OMIM:612289
Restrictive Dermopathy
Atrial septal defect, Short umbilical cord, Large placenta, Choanal atresia, Dextrocardia, Pulmon... ORPHA:1662
Schinzel-Giedion Syndrome
Broad nasal tip, Short nose, Abnormal heart morphology, Hepatoblastoma, Umbilical hernia, Laryngo... ORPHA:798
Tarp Syndrome
Atrial septal defect, Wide nasal bridge, Pulmonary hypoplasia, Tetralogy of Fallot, Anteverted nares ORPHA:2886
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Tracheomalacia, Atelectasis, Repeated pneumothoraces, Pulmonary hypoplasia, Mitral va... ORPHA:536467
Fraser Syndrome 1
Laryngeal atresia, Underdeveloped nasal alae, Midline nasal groove, Abnormal heart morphology, Su... OMIM:219000
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Pulmonary hypoplasia, Pneumothorax, Depressed nasal bridge OMIM:266910
Caudal Regression Sequence
Pulmonary hypoplasia ORPHA:3027
Tetrasomy 9P
Pericarditis, Bulbous nose, Abnormal mitral valve morphology, Absent gallbladder, Biliary atresia... ORPHA:3310
Fetal Akinesia Deformation Sequence 1
Small placenta, Pulmonary hypoplasia, Short umbilical cord, Stillbirth OMIM:208150
Penile Agenesis
Atrial septal defect, Short nose, Ventricular septal defect, Pulmonary hypoplasia, Bilateral lung... ORPHA:49
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia, Umbilical hernia OMIM:265000
Neu-Laxova Syndrome
Spina bifida, Pulmonary hypoplasia ORPHA:2671
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Atelosteogenesis Type Ii
Laryngeal cartilage malformation, Pulmonary hypoplasia, Tracheobronchomalacia, Laryngeal stenosis ORPHA:56304
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Pulmo... OMIM:270400
Distal Monosomy 15Q
Broad nasal tip, Mitral atresia, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Vacterl With Hydrocephalus
Spina bifida, Pulmonary hypoplasia, Tracheoesophageal fistula ORPHA:3412
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Laryngomalacia, Pulmonary hypoplasia, Prominent ... OMIM:606170
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Fraser Syndrome
Midline nasal groove, Underdeveloped nasal alae, Subglottic stenosis, Laryngeal stenosis, Wide na... ORPHA:2052
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Prominent nose OMIM:616300
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Anteverted nares, Short nose, Depressed nasal bridge ORPHA:50945
Tetraamelia Syndrome 1
Choanal atresia, Pulmonary hypoplasia, Asplenia, Peripheral pulmonary vessel aplasia, Single naris OMIM:273395
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Bronchomalacia, Pulmonary hypoplasia OMIM:619351
Spondylodysplastic Ehlers-Danlos Syndrome
Atrial septal defect, Short nose, Abnormal heart valve morphology, Pulmonic stenosis, Aortic valv... ORPHA:536471
Joubert Syndrome 21
Single naris, Pulmonary hypoplasia OMIM:615636
Osteogenesis Imperfecta
Abnormal endocardium morphology, Mitral valve prolapse, Pulmonary hypoplasia, Umbilical hernia ORPHA:666
Orofaciodigital Syndrome Type 4
Short nose, Choanal atresia, Laryngomalacia, Pulmonary hypoplasia, Bilateral lung agenesis, Recur... ORPHA:2753
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Pallister-Killian Syndrome
Atrial septal defect, Short nose, Stillbirth, Ventricular septal defect, Umbilical hernia, Wide n... OMIM:601803
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Bifid epiglottis, Pulmonary hypoplasia, Congenital hepatic fibrosis, Wide nose, Depressed nasal b... ORPHA:93271
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Ulbright-Hodes Syndrome
Pulmonary hypoplasia, Pneumothorax, Depressed nasal bridge ORPHA:3404
Microphthalmia, Syndromic 1
Pulmonary hypoplasia, Bicuspid aortic valve 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 (post-Cre) Mice
Pbrm1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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