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Gene: Esco2 MGI:1919238

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Gene Summary

Name:
establishment of sister chromatid cohesion N-acetyltransferase 2
Synonyms:
D030072L07Rik,  2410004I17Rik

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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.

Select physiological systems to view:
Viewing: all phenotypes
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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.

Histopathology

Images

4 Images

View images
Legacy Phenotype Associated Images
Esco2tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Esco2tm1a(EUCOMM)Wtsi
forearm, HET, Female, WTSI
Esco2tm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Esco2tm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Esco2tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI

View all 80 images

Esco2tm1a(EUCOMM)Wtsi
cornea/lens fusion, HET, Female, WTSI
Esco2tm1a(EUCOMM)Wtsi
cataracts, cornea/lens fusion, corneal opacity, HET, Female, WTSI
Esco2tm1a(EUCOMM)Wtsi
eye, corneal opacity, fused cornea and lens, HET, Female, WTSI
Esco2tm1a(EUCOMM)Wtsi
abnormal retinal pigmentation, HET, Female, WTSI
Esco2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Esco2 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 Esco2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Roberts-Sc Phocomelia Syndrome
Stillbirth, Frontal encephalocele OMIM:268300
Juberg-Hayward Syndrome
ORPHA:2319
Juberg-Hayward Syndrome
OMIM:216100
Roberts Syndrome
ORPHA:3103

The table below shows human diseases predicted to be associated to Esco2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646
Roberts-Sc Phocomelia Syndrome
Stillbirth, Frontal encephalocele OMIM:268300
Juberg-Hayward Syndrome
ORPHA:2319
Juberg-Hayward Syndrome
OMIM:216100
Roberts Syndrome
ORPHA:3103

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 Esco2

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 Esco2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Reduced sister chromatid cohesion acts as a tumor penetrance modifier. PLoS genetics (August 2022) Esco2tm1a(EUCOMM)Wtsi PMC9436123
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Esco2tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Esco2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Esco2tm1a(EUCOMM)Wtsi PMC6459510

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
Esco2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Esco2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Esco2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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