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.
Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.
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 predicted to be associated to Chchd7 by phenotypic similarity.
|Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation||
||Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, Recurrent upper resp...||OMIM:602450|
||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|
||Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasia, Recurrent s...||OMIM:300755|
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.
|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|
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|
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|
|Chchd7tm2e(EUCOMM)Wtsi||Targeted, non-conditional allele||ES Cells|
|Chchd7tm1e(EUCOMM)Wtsi||Targeted, non-conditional allele||ES Cells|