Gene Summary

Name:
activating transcription factor 3
Synonyms:
LRG-21

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased locomotor activity Atf3tm2b(EUCOMM)Wtsi HOM   Early adult 4.16×10-05
abnormal retina morphology Atf3tm2b(EUCOMM)Wtsi HOM Early adult 9.49×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Human diseases caused by Atf3 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 Atf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Pneumonia OMIM:312863
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... OMIM:607271
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Immunodeficiency 95
Respiratory distress, Increased circulating IgG3 level, Recurrent viral upper respiratory tract i... OMIM:619773
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Pneumonia, Panhypogammaglobulinemia OMIM:269840
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... OMIM:300400
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Neoplasm, Decreased circulating IgG level, Partial absence of sp... OMIM:240500
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... ORPHA:217390
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Chronic bronchitis, Pneumonia OMIM:614069
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:613500
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Lymphop... OMIM:300853
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Arthritis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis OMIM:601457
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating ... OMIM:619632
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Decreased specific pneumococcal antibody level, Increased cir... OMIM:615513
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... OMIM:615139
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections OMIM:609529
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level, Respiratory tract infection OMIM:615592
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Facial papilloma, Recurrent lower respiratory tract infections, ... OMIM:619220
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... ORPHA:70593
Pneumocystosis
Increased circulating antibody level, Neoplasm, Chronic oral candidiasis, Multiple pulmonary cyst... ORPHA:723
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Recurrent sinusitis, Decreased circulat... OMIM:616576
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137100
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Cough, Decreased DLCO, Usual inter... OMIM:178500
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Hamartoma, Upper airway obstruction, Dyspnea ORPHA:141152
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira... ORPHA:277
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Bronchiecta... OMIM:618982
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, Decreased circul... OMIM:618108
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Recurrent respiratory infections, Pneumonia OMIM:226990
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Myeloma, Multiple
Multiple myeloma, Paraproteinemia OMIM:254500
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Myelodysplasia, Bronchiectasis, Impa... OMIM:608184
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atop... OMIM:243700
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615451
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Increased circulating... OMIM:618534
Immunodeficiency 104
Otitis media, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, Recurrent otitis media OMIM:608971
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infectio... OMIM:619752
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Idiopathic Achalasia
Wheezing, Bronchitis, Recurrent aspiration pneumonia, Cough ORPHA:930
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, Decreased specific antibody response to vaccination, Uveitis, Pneum... OMIM:614700
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Atopic dermatitis, Pneumonia OMIM:618806
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615504
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... OMIM:616100
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
Aspergillosis
Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Hypersensitivity pneu... ORPHA:1163
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... OMIM:615294
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, B Acute Lymphoblastic Leukemia,... OMIM:619824
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 52
Bronchiectasis, Recurrent pneumonia, Decreased circulating antibody level, Chronic lung disease OMIM:617514
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Recurrent sinusitis... OMIM:615207
Immunodeficiency 27A
Increased circulating IgG level, Abnormal bronchus physiology, Increased inflammatory response, I... OMIM:209950
Immunodeficiency 105
B-cell lymphoma, Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Dec... OMIM:619924
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema, Reduced delayed hypersensitivity, Increased circulating IgM lev... OMIM:617241
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 58
Eczema, Decreased specific antibody response to vaccination, Colitis, Chronic bronchitis, Esophag... OMIM:618131
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating IgE level, Recur... OMIM:618523
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615505
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... ORPHA:33110
Microlissencephaly
Pneumonia ORPHA:1083
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Severe Acute Respiratory Syndrome
Respiratory distress, Neoplasm, Chronic lung disease, Acute infectious pneumonia, Respiratory fai... ORPHA:140896
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, Chronic bronchitis, Increased circulating IgM level, ... OMIM:242860
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma,... OMIM:613490
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Immunodeficiency, Common Variable, 10
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... OMIM:615577
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... ORPHA:275
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Ne... OMIM:612649
Common Variable Immunodeficiency
Otitis media, Gastrointestinal stroma tumor, Chronic otitis media, Lymphoma, Recurrent bronchitis... ORPHA:1572
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... OMIM:611926
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Pneumonia, Lymphadenitis ORPHA:319552
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent pn... OMIM:601495
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreased circu... OMIM:300755
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... OMIM:619510
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Immunodeficiency 75
Bronchiectasis, Recurrent respiratory infections, Lymphoma OMIM:619126
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis... OMIM:619705
Immunodeficiency 36
B-cell lymphoma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent uppe... OMIM:616005
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Whim Syndrome
Papilloma, Sinusitis, Otitis media, Cutaneous melanoma, Lymphadenitis, Recurrent upper respirator... ORPHA:51636
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Esophagitis, Pneumonia... ORPHA:3348
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:608647
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Decreased circulating IgA level, B-cell lymphoma, Inflammatory abnormality of the skin, S... OMIM:102700
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hodgkin lymphoma, Desquamative interstitial pneumonitis, Eczema, Recurrent upper respiratory trac... OMIM:615952
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Panhypogammaglobulinemia, Epididymitis, ... OMIM:307200
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Bloom Syndrome
Cheilitis, Stomach cancer, Otitis media, Uveitis, Pneumonia, Rhinitis, Respiratory failure, Neopl... ORPHA:125
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis... ORPHA:449280
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia,... OMIM:209920
Selective Igm Deficiency
Keratitis, Multiple myeloma, Stomach cancer, Otitis media, Rheumatoid arthritis, Lymphadenitis, N... ORPHA:331235
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Increased circulating IgG level, Recurrent respiratory infect... OMIM:618495
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Chronic bronchitis, Wheezing, Cough, Chronic sinusitis, Recurrent pneumonia, Cili... OMIM:613808
Complement Factor B Deficiency
Peritonitis, Decreased serum complement factor B, Pneumonia OMIM:615561
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... OMIM:612650
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... OMIM:610910
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ... OMIM:617091
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Ciliary dys... OMIM:613807
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re... ORPHA:229717
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media OMIM:620032
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... ORPHA:420741
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Otitis media, Recurrent upp... OMIM:613179
Yellow Nail Syndrome
Neoplasm, Sinusitis, Renal neoplasm, Neoplasm of the lung, Cough, Pleuritis, Pulmonary arterial h... ORPHA:662
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:572
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab... OMIM:614017
Good Syndrome
Thymoma, Sinusitis, Recurrent skin infections, Cough, Decreased circulating antibody level, Bronc... ORPHA:169105
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper and lower respiratory ... ORPHA:911
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract... OMIM:618699
Tempi Syndrome
Abnormality of the pulmonary vasculature, Hemangioma, Increased circulating IgG level, Hypoxemia,... ORPHA:284227
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections OMIM:617092
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersens... OMIM:242700
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... OMIM:612387
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Facial capillary hemangioma, Pneumonia OMIM:300209
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infections, Hemangiom... ORPHA:486
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... OMIM:618063
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Recurrent respira... OMIM:614679
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Otitis media, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Pneumonia, ... OMIM:602450
Panbronchiolitis, Diffuse
Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia OMIM:604809
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... ORPHA:70587
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:331206
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... OMIM:615518
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Pneumonia, Pulmonary embolism OMIM:226300
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Asthma, Osteomyelitis, Increased circulating IgA level, Recurr... ORPHA:443811
Q Fever
Respiratory distress, Increased circulating antibody level, Osteomyelitis, Maculopapular exanthem... ORPHA:781
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, H... ORPHA:228119
Avian Influenza
Respiratory distress, Conjunctivitis, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothor... ORPHA:454836
Autoimmune Lymphoproliferative Syndrome
Gastritis, Non-Hodgkin lymphoma, Basal cell carcinoma, Uveitis, T-cell lymphoma, Bone marrow hypo... ORPHA:3261
Melioidosis
Prostatitis, Osteoarthritis, Acute infectious pneumonia, Hepatitis, Pneumonia, Respiratory tract ... ORPHA:31202
Immunodeficiency 23
Asthma, Hodgkin lymphoma, Eczema, Membranoproliferative glomerulonephritis, Increased circulating... OMIM:615816
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Infl... ORPHA:37042
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit... OMIM:244400
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification OMIM:167800
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... OMIM:606763
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Recurrent streptococcus pneumoniae inf... ORPHA:83471
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Colitis, Gastritis, O... OMIM:619381
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pulmonary hemorrhage, Panhypogammaglobulinemia, Cough, Recurren... ORPHA:79124
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Increased circulat... OMIM:301000
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Ataxia-Telangiectasia
Decreased circulating IgA level, Hodgkin lymphoma, Decreased circulating IgG level, Sinusitis, No... OMIM:208900
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Skin... ORPHA:79128
Brucellosis
Myocarditis, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee osteoarthritis, Pericarditis... ORPHA:1304
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Elevated bronchoalveolar lavage fluid lympho... OMIM:181000
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Colitis, Reduced circulating interferon gamma,... OMIM:301220
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis... ORPHA:36234
Igg4-Related Kidney Disease
Pancreatitis, Complement deficiency, Decreased serum complement C4, Lymphadenitis, Chronic sinusi... ORPHA:449395
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Pneumonia, Dyspnea, Bronchogenic cyst, Pulmonary cyst ORPHA:2357
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent bronchitis, Decrease... ORPHA:293978
Timothy Syndrome
Bronchitis, Pneumonia OMIM:601005
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ... ORPHA:48435
Insulin-Resistance Syndrome Type B
Hodgkin lymphoma, Multiple myeloma, Decreased serum complement factor B, Increased circulating Ig... ORPHA:2298
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Restrictive ven... ORPHA:98897
Bronchial Neuroendocrine Tumor
Asthma, Nonproductive cough, Bronchospasm, Abnormal pulmonary interstitial morphology, Wheezing, ... ORPHA:97287
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peri... ORPHA:228123
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Pancolitis, Increased... OMIM:618213
Nocardiosis
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Respiratory failure, Scl... ORPHA:31204
Nijmegen Breakage Syndrome
Sinusitis, Medulloblastoma, Glioma, Otitis media, Rhabdomyosarcoma, Lymphoma, Recurrent bronchiti... OMIM:251260
Omenn Syndrome
Erythroderma, Thyroiditis, Lymphoma, Pneumonia ORPHA:39041
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Myositis, Arthr... ORPHA:39812
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Pleural empyema, ... ORPHA:544482
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:210900
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Burkitt lymphoma, Decreased circulating IgG level, Increased cir... ORPHA:2442
Microsporidiosis
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... ORPHA:2552
Aregenerative Anemia
Bone marrow hypocellularity, Abnormality of interleukin secretion, Dyspnea ORPHA:101096
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Cough, Hepatitis, Tubulointerstitial n... ORPHA:139402
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Episodic tachypnea ORPHA:79264
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Combined Immunodeficiency Due To Crac Channel Dysfunction
Neoplasm, Chronic otitis media, Pneumonia ORPHA:169090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Aspiration pneumonia, C... ORPHA:1018
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Recurrent respiratory inf... ORPHA:98905
Cryptococcosis
Respiratory distress, Neoplasm, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pe... ORPHA:1546
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation ORPHA:204
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Skin rash, Atopic dermatitis, Chilblains, Arthritis, Recurr... OMIM:615846
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... ORPHA:73263
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis, Central sleep apnea ORPHA:431361
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Pulmonary edema, Acute t... ORPHA:340
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia ORPHA:1855
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia, Mastocytosis ORPHA:2135
Listeriosis
Respiratory distress, Osteomyelitis, Conjunctivitis, Pustule, Arteritis, Peritonitis, Endocarditi... ORPHA:533
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Myelodysplasia, Bone marrow hypocellularity, Squamous cell carcinoma of... OMIM:127550
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Tenorio Syndrome
Stomatitis, Apnea, Keratoconjunctivitis sicca, Pneumonia OMIM:616260
Shwachman-Diamond Syndrome
Sinusitis, Osteomyelitis, Skin rash, Eczema, Impaired neutrophil chemotaxis, Myelodysplasia, Pneu... ORPHA:811
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Tachypnea, Pneumonia ORPHA:26793
Hereditary Orotic Aciduria
Impaired T cell function, Recurrent respiratory infections ORPHA:30
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Shigellosis
Acute colitis, Peritonitis, Myocarditis, Arthritis, Uveitis, Pneumonia, Ulcerative colitis, Conju... ORPHA:810
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... ORPHA:70
Gm1 Gangliosidosis
Aspiration pneumonia, Infectious encephalitis, Recurrent respiratory infections ORPHA:354
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Pneumonia OMIM:603467
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia ORPHA:247691
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Breast carcinoma, Pneumonia ORPHA:90790
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hyp... ORPHA:99104
Chops Syndrome
Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, Aspiration pneumonia, Chronic lun... OMIM:616368
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional dyspnea, P... ORPHA:99103
Mirage Syndrome
Aspiration pneumonia, Myelodysplasia OMIM:617053
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Mucopolysaccharidosis, Type Vi
Sleep apnea, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Pneumo... OMIM:253200
Bickerstaff Brainstem Encephalitis
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory tract inf... ORPHA:79138
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Infectious encephalitis, Pneumonia, Respiratory tract infection ORPHA:68
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Marshall-Smith Syndrome
Apnea, Airway obstruction, Aspiration pneumonia, Recurrent upper respiratory tract infections, Ch... OMIM:602535
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pyoderma, Recurrent skin infections, Stridor, Squamous cell carcinoma, Pneu... ORPHA:79404
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Numerous nevi, Impaired T cell function, Allergic conjunctivitis OMIM:176690
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Mucopolysaccharidosis Type 3
Otitis media, Aspiration pneumonia, Chronic otitis media, Upper airway obstruction, Respiratory t... ORPHA:581
Cholera
Aspiration pneumonia, Hyperventilation, Tachypnea ORPHA:173
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Hepatic hemangioma ORPHA:73230
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Tachypnea, Recurrent aspiration pneumonia, Recurrent respiratory inf... ORPHA:397715
Congenital Fiber-Type Disproportion Myopathy
Respiratory insufficiency due to muscle weakness, Weakness of muscles of respiration, Aspiration ... ORPHA:2020
Orotic Aciduria
Impaired T cell function OMIM:258900
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abnormality of th... ORPHA:449432
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Respiratory distress, Inflammatory abnormality of the skin, Skin rash, Chronic lung di... ORPHA:95455
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Asthma, Neoplasm, Otitis media, Spinal cord tumor, Pilomatrixoma, Pneumonia, Meningioma, Recurren... ORPHA:353281
Degcags Syndrome
Asthma, Rhinitis, Tracheomalacia, Chronic lung disease, Pneumonia, Pulmonary arterial hypertension OMIM:619488
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections, Hepatoblastoma, Papillary thy... ORPHA:1465
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation OMIM:619482
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Plague
Respiratory distress, Enterocolitis, Skin rash, Lymphadenitis, Endocarditis, Inflammation of the ... ORPHA:707
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Liver Disease, Severe Congenital
Chronic gastritis, Status asthmaticus, Pulmonary edema, Peritonitis, Eczema, Cholesteatoma, Cough... OMIM:619991
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Asthma, Tracheomalacia, Aspiration pneumonia, Chronic lung disease, Pulmonary arteri... ORPHA:444077
Arboleda-Tham Syndrome
Respiratory distress, Chronic otitis media, Recurrent aspiration pneumonia, Recurrent otitis medi... OMIM:616268
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Stridor, Tracheomalacia ORPHA:2745
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Blepharitis, Peripheral pulmonary artery stenosis, Pulmonary arte... ORPHA:280633
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Asthma, Otitis media, Pilomatrixoma, Pneumonia, Aspiration, Meningioma, Recurrent respiratory inf... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Asthma, Otitis media, Pilomatrixoma, Pneumonia, Aspiration, Meningioma, Recurrent respiratory inf... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia OMIM:264090
Niemann-Pick Disease Type C
Aspiration pneumonia, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure ORPHA:646
Semilobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Hypoventilation, Obstr... ORPHA:438213
Fontaine Progeroid Syndrome
Respiratory insufficiency, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Pneumothorax, Pu... OMIM:612289
Doors Syndrome
Aspiration pneumonia, Capillary hemangioma, Respiratory distress ORPHA:79500
Hereditary Sensory And Autonomic Neuropathy Type 4
Osteomyelitis, Abnormality of humoral immunity, Recurrent aspiration pneumonia, Fasciitis, Septic... ORPHA:642
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Recurrent otitis media OMIM:147920
Yunis-Varon Syndrome
Aspiration pneumonia, Pulmonary arterial hypertension OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Pericarditis, Respiratory distress, Impaired neutrophil chemotaxis ORPHA:79318

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 Atf3

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 Atf3.

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

Title Journal IMPC Allele PubMed ID
Hepatocyte ATF3 protects against atherosclerosis by regulating HDL and bile acid metabolism. Nature metabolism (January 2021) Atf3tm2c(EUCOMM)Wtsi Atf3tm2a(EUCOMM)Wtsi 33462514

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MGI Allele Allele Type Produced
Atf3tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Atf3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atf3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Atf3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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