Gene Summary

Name:
EPS8-like 1
Synonyms:
EPS8R1,  2310051G19Rik,  4632407K17Rik,  DRC3

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
increased red blood cell distribution width Eps8l1tm2b(KOMP)Wtsi HOM Early adult 7.77×10-06
decreased pulmonary ventilation Eps8l1tm2b(KOMP)Wtsi HOM Early adult 5.15×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland  Wholemount images heterozygote 25% (1 of 4)
Brain  Wholemount images heterozygote 50% (2 of 4)
Cerebellum  Wholemount images heterozygote 25% (1 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images  Section images heterozygote 100% (4 of 4)
Harderian gland  Section images heterozygote 50% (2 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Lung  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images heterozygote 25% (1 of 4)
Olfactory lobe  Wholemount images heterozygote 25% (1 of 4)
Oviduct  Section images heterozygote 50% (2 of 4)
Parathyroid gland  Wholemount images heterozygote 25% (1 of 4)
Penis  Wholemount images  Section images heterozygote 25% (1 of 4)
Pituitary gland  Section images heterozygote 25% (1 of 4)
Skin  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 25% (1 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Thyroid gland  Wholemount images heterozygote 50% (2 of 4)
Tongue  Wholemount images  Section images heterozygote 75% (3 of 4)
Trachea  Wholemount images heterozygote 25% (1 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 75% (3 of 4)
Uterus  Section images heterozygote 25% (1 of 4)
Vagina  Wholemount images  Section images heterozygote 50% (2 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images heterozygote 25% (1 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 25% (1 of 4)
Jejunum N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 25% (1 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (2 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Testis N/A heterozygote 25% (1 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
chest bone Unavailable
colon 15.83% (22 of 139)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.72% (1 of 138)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
ileum 13.97% (19 of 136)
jejunum 8.63% (12 of 139)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 319)
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
tongue 3.65% (5 of 137)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vagina 0.0%
vas deferens 4.64% (18 of 388)
vascular system 0.0%
vesicular gland 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.

Adult LacZ

LacZ Images Wholemount

30 Images

Adult LacZ

LacZ Images Section

49 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Eps8l1 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 Eps8l1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... OMIM:300908
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... OMIM:258900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Respiratory in... OMIM:618278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Hypoventilation OMIM:618232
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... ORPHA:79277
Postpoliomyelitis Syndrome
Respiratory insufficiency, Hypoventilation ORPHA:2942
Perry Syndrome
Central hypoventilation, Respiratory insufficiency, Hypoventilation, Respiratory arrest OMIM:168605
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Apnea, Hypoventilation OMIM:617143
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoxemia, Central hypoventilation, Hypercapnia, Nocturnal hypoventilation, Hypoventilation OMIM:209880
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... ORPHA:70
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Exer... ORPHA:98915
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Mogs-Cdg
Respiratory distress, Apnea, Hepatosplenomegaly, Thrombocytopenia, Hypoventilation ORPHA:79330
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Sleep apnea, Hypoventilation, Recurrent pneumonia OMIM:618493
Bethlem Myopathy
Reduced maximal expiratory pressure, Hypoventilation ORPHA:610
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Aspiration, Hypoventilation, Intercostal muscle weakness, Pulmonary ar... ORPHA:258
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation OMIM:619482
Prader-Willi Syndrome
Sleep apnea, Hypoventilation OMIM:176270
Autosomal Recessive Polycystic Kidney Disease
Splenomegaly, Hepatosplenomegaly, Spontaneous pneumothorax, Recurrent pneumonia, Hypoventilation,... ORPHA:731
Charcot-Marie-Tooth Disease Type 4C
Respiratory insufficiency, Hypoventilation ORPHA:99949
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Central hypoventilation, Cardiorespiratory arrest, Hypoventilation, Obstructive sleep apnea ORPHA:293987
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Anemia, Hypoventilatio... ORPHA:438213

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 Eps8l1

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 Eps8l1.

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

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Eps8l1tm2b(KOMP)Wtsi PMC5638796

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MGI Allele Allele Type Produced
Eps8l1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Eps8l1tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Eps8l1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Eps8l1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Eps8l1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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