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Gene: Rnaseh2b MGI:1914403

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Gene Summary

Name:
ribonuclease H2, subunit B
Synonyms:
Dleu8,  1110019N06Rik,  2610207P08Rik

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
preweaning lethality, complete penetrance Rnaseh2btm1a(EUCOMM)Wtsi HOM   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

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Rnaseh2btm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
head, HET, Female, WTSI

View all 86 images

Rnaseh2btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
back skin, WT, Female, WTSI
Rnaseh2btm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

View all 6 images

Human diseases caused by Rnaseh2b 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 Rnaseh2b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Hy... ORPHA:51
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181

The table below shows human diseases predicted to be associated to Rnaseh2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Thrombo... OMIM:189800
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Intrauterine growth retardation, Interface hepatitis, Death in childho... OMIM:243150
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Hypopla... OMIM:619313
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Death in childhood, Cryptorchidism, Hypoplasia of the thymus, Ja... OMIM:214110
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Oligohydramnios, Hydrops fetalis, Hypoplasia of the thymus OMIM:617022
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Lymphopenia, Intrauterine growth retardation, Abnormality... ORPHA:84064
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Mitral regurgitation, Splenomegaly, Cryptorchidism, ... OMIM:612541
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Death in infancy, Abnormal natural killer cell count OMIM:612782
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Abnormal eosinophil morphology, Acute leukemia, Recurrent in... ORPHA:906
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Autoimm... ORPHA:436252
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Umbilical hernia, Ascites, Death in childhood, Death in infancy, Hypoplasia of ... OMIM:613177
Isolated Anencephaly
Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Cholelithiasis, Umbilical hernia, Intrauterine ... ORPHA:567
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... OMIM:265300
Ataxia-Telangiectasia
Leukemia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count... OMIM:208900
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, G... OMIM:616843
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Truncus Arteriosus
Aortic regurgitation, Intrauterine growth retardation, Abnormal heart valve physiology, Pulmonary... ORPHA:3384
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ad... ORPHA:861
Eec Syndrome
Xerostomia, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Shor... ORPHA:1896
Fraser Syndrome 2
Hypoplasia of the thymus, Oligohydramnios OMIM:617666
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Splenomegaly, Hepatic steatosis, Ovaria... OMIM:188400
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Thymus hyperplasia, Chylothorax, Death in infancy OMIM:619036
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemol... OMIM:102700
Wiedemann-Rautenstrauch Syndrome
Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus, Increased serum testos... OMIM:264090
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... ORPHA:83471
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Branchial cyst, Intrauterine growth retardation, Congenital hypothyroidism, Prolon... OMIM:620186
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hypoparathyroi... OMIM:618223
Monosomy 22
Hepatosplenomegaly, Aplasia of the thymus, Joint swelling, Hypochromic microcytic anemia ORPHA:96123
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries ORPHA:2969
Proteus Syndrome
Pulmonary embolism, Thymus hyperplasia, Diabetes insipidus, Lymphedema, Neoplasm of the thymus, S... ORPHA:744
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Hy... ORPHA:51
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181

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 Rnaseh2b

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 Rnaseh2b.

There are 13 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Activation of the cGAS/STING Axis in Genome-Damaged Hematopoietic Cells Does Not Impact Blood Cell Formation or Leukemogenesis. Cancer research (September 2023) Rnaseh2btm1c(EUCOMM)Wtsi 37335136
Senataxin and RNase H2 act redundantly to suppress genome instability during class switch recombination. eLife (December 2022) Rnaseh2btm1c(EUCOMM)Wtsi PMC9771370
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline. Nature (February 2022) Rnaseh2btm1c(EUCOMM)Wtsi PMC8866115
Genome instability independent of type I interferon signaling drives neuropathology caused by impaired ribonucleotide excision repair. Neuron (October 2021) Rnaseh2btm1a(EUCOMM)Wtsi Rnaseh2btm1c(EUCOMM)Wtsi 34655526
Epithelial X-Box Binding Protein 1 Coordinates Tumor Protein p53-Driven DNA Damage Responses and Suppression of Intestinal Carcinogenesis. Gastroenterology (September 2021) Rnaseh2btm1c(EUCOMM)Wtsi 34599932
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Rnaseh2btm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Rnaseh2btm1a(EUCOMM)Wtsi PMC6459510
Epithelial RNase H2 Maintains Genome Integrity and Prevents Intestinal Tumorigenesis in Mice. Gastroenterology (September 2018) Rnaseh2btm1c(EUCOMM)Wtsi PMC6311085
Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin. Cancer research (August 2018) Rnaseh2btm1c(EUCOMM)Wtsi 30154151
Absence of RNase H2 triggers generation of immunogenic micronuclei removed by autophagy. Human molecular genetics (October 2017) Rnaseh2btm1c(EUCOMM)Wtsi 29016854
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response. The EMBO journal (February 2016) Rnaseh2btm1a(EUCOMM)Wtsi PMC4855687
Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity. The Journal of experimental medicine (July 2012) Rnaseh2btm1a(EUCOMM)Wtsi Rnaseh2btm1c(EUCOMM)Wtsi PMC3409502
Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development. Cell (May 2012) Rnaseh2btm1a(EUCOMM)Wtsi PMC3383994

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
Rnaseh2btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rnaseh2btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rnaseh2btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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