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Gene: Polr3a MGI:2681836

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Polr3aem2(IMPC)Tcp HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Polr3aem2(IMPC)Tcp HOM   E12.5 0.00
enlarged urinary bladder Polr3aem2(IMPC)Tcp HET Early adult 0.00
increased bone mineral content Polr3aem2(IMPC)Tcp HET Early adult 1.83×10-05
embryonic lethality prior to organogenesis Polr3aem2(IMPC)Tcp HOM   E9.5 0.00
increased mean platelet volume Polr3aem2(IMPC)Tcp HET Early adult 6.11×10-07
enlarged lymph nodes Polr3aem2(IMPC)Tcp HET Early adult 0.00

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.

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 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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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Histopathology

Images

1 Images

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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
Loss of ambulation, Ataxia, Dysmetria OMIM:607694
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Dysmetria ORPHA:447896
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Hypospadias, Dilatation of renal calices, Vesicoureteral reflux, Hydronephrosis, Wide... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Long penis, Hypospadias 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
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume... ORPHA:182050
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Osteoporosis, Splenomegaly, Abnor... ORPHA:100024
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hydronephrosis, Thrombocytopenia OMIM:300048
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Anemia, Hydronephrosis, Thro... OMIM:611209
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macroscopic hematuria, Macrothrombocyto... ORPHA:274
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Abnormality of... OMIM:612840
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Increased mean platelet volume, Hydronephrosis, Thrombocy... OMIM:616737
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Galactosuria, Increased mean platelet volume, Renal cortical microcyst... OMIM:222470
Syndromic Diarrhea
Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Renal hypoplasia, Increased ... ORPHA:84064
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, ... OMIM:602450
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa... OMIM:187900
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Abnormality of the lymphatic system, Increased mean plate... ORPHA:487796
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ... OMIM:301078
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac... OMIM:603585
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells... ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia ORPHA:88637
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Loss of ambulation, Ataxia, Dysmetria OMIM:607694
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Dysmetria ORPHA:447896
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Hypospadias, Dilatation of renal calices, Vesicoureteral reflux, Hydronephrosis, Wide... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Long penis, Hypospadias 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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