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Gene: Eomes MGI:1201683

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Gene Summary

Name:
eomesodermin
Synonyms:
Tbr2

Order Alleles

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 total body fat amount Eomestm1b(EUCOMM)Wtsi HET Early adult 2.51×10-07
embryonic lethality prior to tooth bud stage Eomestm1b(EUCOMM)Wtsi HOM   E12.5 0.00
decreased circulating creatinine level Eomestm1b(EUCOMM)Wtsi HET Early adult 2.30×10-05
embryonic lethality prior to organogenesis Eomestm1b(EUCOMM)Wtsi HOM   E9.5 0.00
decreased bone mineral content Eomestm1b(EUCOMM)Wtsi HET   Early adult 3.27×10-05
preweaning lethality, complete penetrance Eomestm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased lean body mass Eomestm1b(EUCOMM)Wtsi HET Early adult 4.00×10-06

Download data as:  TSV  XLS

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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
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine 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)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system 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)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach 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)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

4 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
ORPHA:171703

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess OMIM:618108
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:616050
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... OMIM:615513
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... OMIM:600802
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Failure to thrive, Decreased serum creatinine, Hypocystinemia OMIM:617744
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration OMIM:617872
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Fanconi Renotubular Syndrome 3
Rickets, Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Osteomalacia OMIM:179800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Abs... OMIM:608233
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... ORPHA:331206
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... OMIM:301074
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Decrea... ORPHA:221139
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration ORPHA:275555
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
C3 Glomerulopathy
Lipodystrophy, Elevated circulating creatinine concentration ORPHA:329918
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... ORPHA:158061
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... ORPHA:79124
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... ORPHA:158048
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Osteoporosis ORPHA:232
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia OMIM:618885
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:619381
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Inguinal hernia, Elevated circulating creatinine concentration OMIM:614376
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune... ORPHA:572
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Increased total bilirubin, Decreased plasma free carnitine, Elbow flexi... OMIM:608836
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... OMIM:613095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Weight loss ORPHA:90060
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:606367
Multiple Myeloma
Weight loss, Hypercalcemia, Osteopenia, Elevated circulating creatinine concentration, Hyperprote... ORPHA:29073
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Bacterial Toxic-Shock Syndrome
Cellulitis, Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating c... ORPHA:36234
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Juvenile Nephropathic Cystinosis
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremi... ORPHA:411634
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Elevated circulating creatinine concentra... ORPHA:85450
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Oligomeganephronia
Small for gestational age, Congenital diaphragmatic hernia, Elevated circulating creatinine conce... ORPHA:2260
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... ORPHA:90038
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Lymphopenia, Decreased... OMIM:208900
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:607944
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Thymic Aplasia
Coombs-positive hemolytic anemia, Aplasia of the thymus, T lymphocytopenia, Decreased proportion ... ORPHA:83471
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... ORPHA:508533
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Decreased body weight, Hyperkal... ORPHA:340
Vici Syndrome
Leukopenia, T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... ORPHA:99826
Agammaglobulinemia, X-Linked
Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia OMIM:300755
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology OMIM:618223
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia OMIM:251260
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Inguinal hernia, Failure to thrive, Increased circulating ferritin concentrat... OMIM:619534
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Weight loss, Elevated circulating C-reactive protein concentration, Chorioretinal ... ORPHA:91500
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
ORPHA:171703

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 Eomes

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 Eomes.

No publications found that use IMPC mice or data for Eomes.

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MGI Allele Allele Type Produced
Eomestm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Eomestm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eomestm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Eomestm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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