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Gene: Irf7 MGI:1859212

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Gene Summary

Name:
interferon regulatory factor 7
Synonyms:
N/A

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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 retina morphology Irf7tm1(KOMP)Wtsi HOM   Early adult 7.97×10-05

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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 Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Histopathology

Images

1 Images

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Legacy Phenotype Associated Images
Irf7tm1(KOMP)Wtsi
HOM, Male, WTSI
Irf7tm1(KOMP)Wtsi
HOM, Male, WTSI
Irf7tm1(KOMP)Wtsi
HOM, Male, WTSI
Irf7tm1(KOMP)Wtsi
HOM, Male, WTSI
Irf7tm1(KOMP)Wtsi
HOM, Male, WTSI

View all 90 images

Irf7tm1(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Irf7tm1(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Irf7tm1(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Irf7tm1(KOMP)Wtsi
right eye, WT, Female, WTSI
Irf7tm1(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Irf7tm1(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Irf7 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 Irf7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 39
Severe influenza infection OMIM:616345

The table below shows human diseases predicted to be associated to Irf7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Immunodeficiency 39
Severe influenza infection OMIM:616345
Choroidal Dystrophy, Central Areolar, 3
Drusen, Chorioretinal atrophy OMIM:613144
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Coloboma Of Macula
Macular coloboma OMIM:120300
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections OMIM:614493
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... OMIM:240500
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Immunodeficiency 66
Defective T cell proliferation, Meningitis, Sepsis OMIM:618847
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Immunodeficiency, Common Variable, 1
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... OMIM:607594
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Increased circulating IgE level, Recurrent pneumonia, Recurre... ORPHA:277
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Immunodeficiency 96
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... OMIM:619774
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... OMIM:308230
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... ORPHA:83471
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... OMIM:619374
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Recurrent infections, Increased circulating IgG level, Increased... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Recurrent viral infections, Partial IgA deficiency, Recurrent o... ORPHA:35078
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell... OMIM:617241
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... ORPHA:331206
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Impaired T cell function, Recurrent viral infections, Recurre... OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,... OMIM:242700
Roifman Syndrome
Recurrent otitis media, Decreased T cell activation, Recurrent pneumonia, Decreased circulating a... ORPHA:353298
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Elevated circulating creatine kinase conce... OMIM:614576
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... OMIM:618213
Wiskott-Aldrich Syndrome
Recurrent herpes, Increased circulating IgA level, Reduced natural killer cell activity, Increase... OMIM:301000
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:66628
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections ORPHA:179494
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ... OMIM:242840
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology, Recurrent ... ORPHA:1830
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Orotic Aciduria
Impaired T cell function OMIM:258900
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Recurrent viral infections OMIM:176690
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Digeorge Syndrome
Impaired T cell function, Recurrent pneumonia, Recurrent infections, Recurrent sinusitis, Recurre... OMIM:188400
22Q11.2 Deletion Syndrome
Impaired T cell function ORPHA:567

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 Irf7

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 Irf7.

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) Irf7tm1(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Irf7tm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Irf7tm1(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Irf7tm1(KOMP)Wtsi Irf7tm1(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Irf7tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Irf7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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