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Gene: Dffb MGI:1196287

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Gene Summary

Name:
DNA fragmentation factor, beta subunit
Synonyms:
CAD,  40kDa,  CPAN,  caspase-activated DNase,  Didff,  5730477D02Rik,  DFF40

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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
increased anti-nuclear antigen antibody level Dffbem1(IMPC)Wtsi HOM Early adult 0.00

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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.

X-ray

XRay Images Forepaw

17 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Dffbem1(IMPC)Wtsi
HOM, Male, WTSI
Dffbem1(IMPC)Wtsi
HOM, Male, WTSI
Dffbem1(IMPC)Wtsi
HOM, Male, WTSI
Dffbem1(IMPC)Wtsi
HOM, Male, WTSI
Dffbem1(IMPC)Wtsi
HOM, Male, WTSI

View all 73 images

Dffbem1(IMPC)Wtsi
abnormal tail morphology, abnormal tail tip morphology, HOM, Female, WTSI
Dffbem1(IMPC)Wtsi
abnormal tail morphology, abnormal tail tip morphology, HOM, Female, WTSI
Dffbem1(IMPC)Wtsi
abnormal coat/hair pigmentation, HOM, Female, WTSI

Human diseases caused by Dffb 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 Dffb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000

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 Dffb

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 Dffb.

There are 5 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) Dffbem1(IMPC)Wtsi PMC7263671
The Biology of Cell-free DNA Fragmentation and the Roles of DNASE1, DNASE1L3, and DFFB. American journal of human genetics (January 2020) Dffbem1(IMPC)Wtsi 32004449
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Dffbem1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dffbem1Wtsi Dffbem2Wtsi PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dffbem2Wtsi PMC5827107

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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
Dffbtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dffbtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dffbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dffbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dffbem1(IMPC)Wtsi Exon Deletion Mice

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