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Gene: Chchd7 MGI:1913683

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Gene Summary

Name:
coiled-coil-helix-coiled-coil-helix domain containing 7
Synonyms:
1810049H20Rik

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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
abnormal skin morphology Chchd7em3(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Chchd7em3(IMPC)Tcp HOM Early adult 0.00
abnormal lung morphology Chchd7em3(IMPC)Tcp 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.

Histopathology

Images

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Chchd7 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 Chchd7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, Recurrent upper resp... OMIM:602450
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Lymph node hypoplasia, Rec... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Pneumonia, Absent tonsils ORPHA:276
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasia, Recurrent s... OMIM:300755

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
Sciatic nerve - MPATH pathological process term dysplasia Chchd7em3(IMPC)Tcp HOM Early adult
Sciatic nerve - MPATH pathological process term hyperplasia Chchd7em3(IMPC)Tcp HOM Early adult
Sciatic nerve - MPATH pathological process term hydropic degeneration Chchd7em3(IMPC)Tcp HOM Early adult
Sciatic nerve - MPATH pathological process term atrophy Chchd7em3(IMPC)Tcp 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 Chchd7.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The chromatin remodelling factor Chd7 protects auditory neurons and sensory hair cells from stress-induced degeneration. Communications biology (November 2021) Chchd7tm1a(EUCOMM)Wtsi PMC8566505

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
Chchd7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chchd7em3(IMPC)Tcp Exon Deletion Mice
Chchd7tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Chchd7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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