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Gene: Ascc1 MGI:1916340

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Gene Summary

Name:
activating signal cointegrator 1 complex subunit 1
Synonyms:
1810015P09Rik,  ASC1p50,  CGI-18

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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
abnormal body wall morphology Ascc1em1(IMPC)Bay HOM E18.5 0.00
abnormal eye anterior chamber depth Ascc1em1(IMPC)Bay HET   Early adult 1.11×10-05
preweaning lethality, incomplete penetrance Ascc1em1(IMPC)Bay HOM   Early adult 0.00
thick ventricular wall Ascc1em1(IMPC)Bay HET Early adult 3.43×10-05

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Human diseases caused by Ascc1 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 Ascc1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale OMIM:616867
Barrett Esophagus
OMIM:614266

The table below shows human diseases predicted to be associated to Ascc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale OMIM:616867
Barrett Esophagus
OMIM:614266

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 Ascc1

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 Ascc1.

No publications found that use IMPC mice or data for Ascc1.

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MGI Allele Allele Type Produced
Ascc1em1(IMPC)Bay Exon Deletion Mice
Ascc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ascc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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