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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.

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 hepatic transaminase, Diabetes mellitus, Short stature, Neonatal alloimmune thrombocytop... 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, Hypoplasia of the thymus, Death in childhood OMIM:200900
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Edema, Hypertension, Intrauterine growth retardation, Thrombocytop... OMIM:189800
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... OMIM:300400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Cryptorchidism, Jaundice, Hypopla... OMIM:214110
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus, Hydrops fetalis, Oligohydramnios OMIM:617022
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Thrombocytosis, Short stature, Increased mean platelet volume... ORPHA:84064
Immunodeficiency 9
Death in infancy, Hypoplasia of the thymus OMIM:612782
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ... OMIM:612541
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent intrapulmonary hemorrhage, Abnormal eosinophil morphology, Epistaxis,... ORPHA:906
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Adrenal hypoplasia, Periorbital edema, Growth delay, Hypoplas... OMIM:613177
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypoparathyroidism, Hyperthyroidism, Short stature, Abnormality of t... ORPHA:567
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Short stature, Acute lymphob... OMIM:208900
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per... OMIM:616843
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Hypoplasia of the thymus, Pul... ORPHA:3384
Eec Syndrome
Short stature, Decreased response to growth hormone stimulation test, Xerostomia, Hypoplasia of t... ORPHA:1896
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia o... ORPHA:861
Fraser Syndrome 2
Hypoplasia of the thymus, Oligohydramnios OMIM:617666
Digeorge Syndrome
Parathyroid agenesis, Cholelithiasis, Decreased circulating parathyroid hormone level, Short stat... OMIM:188400
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Chylothorax, Polyhydramnios OMIM:619036
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature ORPHA:3004
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Wiedemann-Rautenstrauch Syndrome
Short stature, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, Intr... OMIM:264090
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Absent nipple, Aplasia of the thymus, Short stature, Polyhydramnios, Congenital h... OMIM:620186
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Monosomy 22
Joint swelling, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Proteus Syndrome
Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Lymphedema, Splenomegaly, Testicula... ORPHA:744
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Short stature, Neonatal alloimmune thrombocytop... 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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