Gene Summary

Name:
polymerase (RNA) III (DNA directed) polypeptide A
Synonyms:
RPC155,  9330175N20Rik,  RPC1

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
preweaning lethality, complete penetrance Polr3aem2(IMPC)Tcp HOM   Early adult 0.00
enlarged urinary bladder Polr3aem2(IMPC)Tcp HET Early adult 0.00
enlarged lymph nodes Polr3aem2(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Polr3aem2(IMPC)Tcp HOM   E12.5 0.00
increased mean platelet volume Polr3aem2(IMPC)Tcp HET Early adult 4.27×10-07
embryonic lethality prior to organogenesis Polr3aem2(IMPC)Tcp HOM   E9.5 0.00
increased bone mineral content Polr3aem2(IMPC)Tcp HET Early adult 1.83×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Histopathology

Images

1 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Human diseases caused by Polr3a 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 Polr3a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia ORPHA:88637
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysmetria, Ataxia OMIM:607694
Tremor-Ataxia-Central Hypomyelination Syndrome
Dysmetria, Ataxia ORPHA:447896
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Hydronephrosis, Hypospadias, Dilatation of renal calices, Wide penis, Vesicoureteral ... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia OMIM:264090

The table below shows human diseases predicted to be associated to Polr3a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Myh9-Related Disease
Proteinuria, Giant platelets, Nephritis, Nephropathy, Neutrophil inclusion bodies, Renal insuffic... ORPHA:182050
Fechtner syndrome
Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Nephritis, Neutrophil inclus... OMIM:153640
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Slc35A1-Cdg
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Osteoporosis, Abnormal B cell count, Anemia, Bence Jones Proteinuria,... ORPHA:100024
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Hyposegmentation of neutrophil nuclei, ... OMIM:169400
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Macroscopic hematuria, Decreased platelet glycoprotein Ib... ORPHA:274
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of thrombocytes... OMIM:612840
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... OMIM:616737
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Horseshoe kidney, Osteoporosis, Acanthocytosis, Anisopoikiloc... OMIM:607330
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Hypopl... ORPHA:84064
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Thrombocytosis, Hepatomegaly, Galactosuria, Hypospadias, Increased mea... OMIM:222470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Abnormality of the lymphatic system, Thrombocytopenia,... ORPHA:487796
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morph... ORPHA:3318
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Neutropenia, Aminoaciduria, Decreased platelet glycoprotein I... OMIM:603585
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Lymph node hypoplasia OMIM:300755
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia ORPHA:88637
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysmetria, Ataxia OMIM:607694
Tremor-Ataxia-Central Hypomyelination Syndrome
Dysmetria, Ataxia ORPHA:447896
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Hydronephrosis, Hypospadias, Dilatation of renal calices, Wide penis, Vesicoureteral ... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia OMIM:264090

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 Polr3a

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 Polr3a.

No publications found that use IMPC mice or data for Polr3a.

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MGI Allele Allele Type Produced
Polr3aem2(IMPC)Tcp Point Mutation Mice, Tissue
Polr3aem1(IMPC)Tcp Point Mutation Mice
Polr3atm119248(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Polr3atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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