Gene Summary

Name:
establishment of sister chromatid cohesion N-acetyltransferase 1
Synonyms:
A930014I12Rik

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
decreased total body fat amount Esco1tm1(KOMP)Wtsi HOM Early adult 8.02×10-07
decreased body weight Esco1tm1(KOMP)Wtsi HOM Early adult 4.00×10-08
decreased circulating cholesterol level Esco1tm1(KOMP)Wtsi HOM Early adult 5.06×10-05

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.

Histopathology

Images

6 Images

Legacy Phenotype Associated Images

View all 62 images

Human diseases caused by Esco1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Esco1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Knee flexion contra... OMIM:618156
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th... OMIM:266510
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive OMIM:608776
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:607765
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, Elevated circulating creatine k... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distrib... OMIM:212065
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Camptodactyly, Abnormal ad... ORPHA:79324
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Fa... OMIM:270400

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.

Phenotype Allele Zygosity Sex Life Stage
Brain - process of degenerative change Esco1tm1(KOMP)Wtsi HOM Early adult

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 Esco1.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Esco1tm1(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Esco1tm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Esco1tm1(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Esco1tm1(KOMP)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
Esco1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Esco1tm455221(L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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