Gene Summary

Name:
elaC ribonuclease Z 2
Synonyms:
D11Wsu80e,  tRNase Z(L),  1110017O07Rik

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 Elac2tm1b(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

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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Forepaw

15 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 91 images

Human diseases caused by Elac2 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 Elac2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 17
OMIM:615440

The table below shows human diseases predicted to be associated to Elac2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Prostate Cancer, Hereditary, X-Linked 1
Prostate cancer OMIM:300147
Prostate Cancer, Hereditary, 1
Prostate cancer OMIM:601518
Prostate Cancer
Prostate cancer OMIM:176807
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer OMIM:603688
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Prostatitis, Pyoderma, Pneumonia, Recurren... OMIM:307200
Melioidosis
Pneumonia, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Osteoarthritis... ORPHA:31202
Microsporidiosis
Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Abnormal endometrium morphology, Nephritis, Pne... ORPHA:2552
Agammaglobulinemia, X-Linked
Prostatitis, Pyoderma, Recurrent otitis media, Enteroviral hepatitis, Bronchiectasis, Recurrent s... OMIM:300755
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... ORPHA:449432
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Sialadenitis, Thyroiditis, Sinu... ORPHA:449563
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Osteomyelitis ORPHA:1546
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Sialadenitis, Thyroiditis, Intersti... ORPHA:449395
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:900
Alkaptonuria
Prostatitis, Black pigment gallstones, Arthritis, Hypothyroidism, Osteoarthritis ORPHA:56
Lymphatic Filariasis
Knee osteoarthritis, Lymphadenitis, Abnormal scrotum morphology, Orchitis, Epididymitis, Vaginal ... ORPHA:2035
Malakoplakia
Prostate neoplasm, Skin rash, Inflammatory abnormality of the skin, Orchitis, Abnormality of the ... ORPHA:556
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Arthritis, Skin rash, Pericarditis, Erysipelas, Orchitis, Peritonitis, Conjunctivitis, ... ORPHA:32960
Familial Mediterranean Fever
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis OMIM:249100
Immunoglobulin A Vasculitis
Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis ORPHA:761
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Pericarditis, Erysipelas, Orchitis, Osteoarthritis, Peritonitis ORPHA:342
Brucellosis
Myocarditis, Hip osteoarthritis, Arteritis, Knee osteoarthritis, Arthritis, Pericarditis, Sacroil... ORPHA:1304
Beh├žet Disease
Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Increased infla... ORPHA:117
Postinfectious Vasculitis
Gastrointestinal inflammation, Bacterial endocarditis, Arthritis, Viral hepatitis, Inflammatory a... ORPHA:48435
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Myocarditis, Parotitis, Acute pancreatitis, Hyperhidrosis, Orchitis, Epididymi... ORPHA:99827
Marburg Hemorrhagic Fever
Pancreatitis, Arthritis, Skin rash, Pericarditis, Orchitis, Maculopapular exanthema, Uveitis ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 17
OMIM:615440

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 Elac2

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 Elac2.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mitochondrial gene expression is required for platelet function and blood clotting. Cell reports (October 2023) Elac2tm1c(EUCOMM)Wtsi Elac2tm1d(EUCOMM)Wtsi 37889747
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Elac2tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Elac2tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Elac2tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Elac2tm1b(EUCOMM)Wtsi PMC6459510
Concerted regulation of mitochondrial and nuclear non-coding RNAs by a dual-targeted RNase Z. EMBO reports (August 2018) Elac2tm1c(EUCOMM)Wtsi Elac2tm1a(EUCOMM)Wtsi Elac2tm1d(EUCOMM)Wtsi 30126926
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Elac2tm1b(EUCOMM)Wtsi PMC5827107

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
Elac2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Elac2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Elac2tm33806(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Elac2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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