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Gene: Polr1b MGI:108014

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Gene Summary

Name:
polymerase (RNA) I polypeptide B
Synonyms:
128kDa,  Rpo1-2,  RPA116,  RPA2,  D630020H17Rik

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
abnormal tooth morphology Polr1bem1(IMPC)Tcp HET   Early adult 9.82×10-05
enlarged lymph nodes Polr1bem1(IMPC)Tcp HET Early adult 0.00
enlarged kidney Polr1bem1(IMPC)Tcp HET Early adult 0.00
enlarged thymus Polr1bem1(IMPC)Tcp HET Late adult 0.00
thick skin Polr1bem1(IMPC)Tcp HET Late adult 0.00
abnormal liver morphology Polr1bem1(IMPC)Tcp HET Late adult 0.00
prenatal lethality prior to heart atrial septation Polr1bem1(IMPC)Tcp HOM   E15.5 0.00
enlarged urinary bladder Polr1bem1(IMPC)Tcp HET Late adult 0.00
preweaning lethality, complete penetrance Polr1bem1(IMPC)Tcp HOM   Early adult 0.00
enlarged thymus Polr1bem1(IMPC)Tcp HET Early adult 0.00

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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.

Eye Morphology

Images Slit Lamp

114 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

153 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

14 Images

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Eye Morphology

Images Ophthalmoscopy

94 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

15 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Polr1b 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 Polr1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Treacher-Collins Syndrome
Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia,... ORPHA:861
Treacher Collins Syndrome 4
Malar flattening, Cleft palate, Micrognathia OMIM:618939

The table below shows human diseases predicted to be associated to Polr1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Chronic ki... ORPHA:85445
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Micrognathia OMIM:618272
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Papillary renal ce... ORPHA:97290
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom... OMIM:617303
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora... OMIM:602450
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Asplenia, Splenomegaly, Pancreatic cysts,... OMIM:208540
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc... ORPHA:251004
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... OMIM:204690
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Nephrolithiasis, Oral ulcer, Focal ... OMIM:232220
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph... ORPHA:839
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Isolated Anencephaly
Cleft lip, Thymus hyperplasia ORPHA:563609
Diaphanospondylodysostosis
Nephrogenic rest, Micrognathia, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Cystic renal... OMIM:608022
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Enamel-Renal Syndrome
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... ORPHA:1031
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters OMIM:226650
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
H Syndrome
Abnormality of the kidney, Cleft upper lip, Microcytic anemia, Gingival overgrowth, Lymphadenopat... ORPHA:168569
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorchidism, Mi... OMIM:612651
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Chronic neutropenia, Carious teeth, Stage 5 chronic kidney disease, Ne... ORPHA:79259
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Micropenis, Bifi... OMIM:613091
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne... ORPHA:505248
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... ORPHA:276280
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... OMIM:276700
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Helsmoortel-Van Der Aa Syndrome
Smooth philtrum, Thin upper lip vermilion, Recurrent urinary tract infections, Decreased response... OMIM:615873
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Hypersplenism, Splenomegal... ORPHA:731
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Alg9-Cdg
Microretrognathia, Hypoplasia of the bladder, Hepatomegaly, Smooth philtrum, Thin upper lip vermi... ORPHA:79328
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... OMIM:130650
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... OMIM:232200
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Gingival overgrowth, Wide mouth, Macroglo... OMIM:252500
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Po... ORPHA:116
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Velop... OMIM:613680
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Hyperphosphaturia, Medullary nephrocalcinosis, Hypoplasia of teeth OMIM:613312
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pure red cell aplasia... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell... ORPHA:276
Ogden Syndrome
Cardiomegaly, Micrognathia, Deep philtrum, Iron deficiency anemia, Short philtrum, High palate, P... OMIM:300855
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr... ORPHA:500095
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... OMIM:211900
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Renal cyst, Hepatomegaly, Exaggerated median tongue furrow, Hypospadias, C... OMIM:312870
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Enlarged kidney, Cardiomegaly OMIM:261740
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Thick vermilion bor... ORPHA:508
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urac... OMIM:618280
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, ... OMIM:300755
Treacher-Collins Syndrome
Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia,... ORPHA:861
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia OMIM:180920
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Enlarged polycystic o... ORPHA:744
Treacher Collins Syndrome 4
Malar flattening, Cleft palate, Micrognathia OMIM:618939

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 Polr1b

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 Polr1b.

No publications found that use IMPC mice or data for Polr1b.

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MGI Allele Allele Type Produced
Polr1btm372681(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Polr1bem1(IMPC)Tcp Exon Deletion Mice, Tissue

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