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Gene: Elac2 MGI:1890496

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Gene Summary

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

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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 Elac2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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Select physiological systems to view:
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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

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X-ray

XRay Images Forepaw

15 Images

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Eye Morphology

Images Slit Lamp

2 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Elac2tm1b(EUCOMM)Wtsi
HET, Male, WTSI
Elac2tm1b(EUCOMM)Wtsi
HET, Male, WTSI
Elac2tm1b(EUCOMM)Wtsi
HET, Male, WTSI
Elac2tm1b(EUCOMM)Wtsi
HET, Female, WTSI
Elac2tm1b(EUCOMM)Wtsi
HET, Female, WTSI

View all 91 images

Elac2tm1b(EUCOMM)Wtsi
narrow eye opening, HET, Female, WTSI
Elac2tm1b(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Female, WTSI
Elac2tm1b(EUCOMM)Wtsi
abnormal sclera morphology, HET, Female, WTSI
Elac2tm1b(EUCOMM)Wtsi
abnormal coat/hair pigmentation, HET, Male, WTSI

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
Pneumonia, Recurrent otitis media, Pyoderma, Decreased response to growth hormone stimulation tes... OMIM:307200
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect... ORPHA:31202
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteomyelitis, Myositis, Peritoni... ORPHA:2552
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Igg4-Related Ophthalmic Disease
Keratitis, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatit... ORPHA:449563
Cryptococcosis
Peritonitis, Osteomyelitis, Prostatitis, Pneumonia ORPHA:1546
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Sia... ORPHA:449395
Granulomatosis With Polyangiitis
Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I... ORPHA:900
Alkaptonuria
Black pigment gallstones, Prostatitis, Hypothyroidism, Osteoarthritis, Arthritis ORPHA:56
Lymphatic Filariasis
Lymphadenitis, Abnormal scrotum morphology, Orchitis, Knee osteoarthritis, Vaginal hydrocele, Glo... ORPHA:2035
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... ORPHA:556
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Conjunctiv... ORPHA:32960
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis OMIM:249100
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
Familial Mediterranean Fever
Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis ORPHA:342
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha... ORPHA:1304
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Crimean-Congo Hemorrhagic Fever
Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Orchitis, Hyperhidrosis, Eryt... ORPHA:99827
Marburg Hemorrhagic Fever
Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthema, Pericarditis 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

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MGI Allele Allele Type Produced
Elac2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Elac2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
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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