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Gene: Eps15l1 MGI:104582

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Gene Summary

Name:
epidermal growth factor receptor pathway substrate 15-like 1
Synonyms:
9830147J04Rik,  Eps15-rs,  Eps15R

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 circulating alkaline phosphatase level Eps15l1em1(IMPC)J HOM Early adult 1.27×10-13
hyperactivity Eps15l1em1(IMPC)J HOM   Early adult 3.28×10-26
abnormal vocalization Eps15l1em1(IMPC)J HOM Early adult 2.94×10-10
irregularly shaped pupil Eps15l1em1(IMPC)J HOM Early adult 5.27×10-05
increased mean corpuscular volume Eps15l1em1(IMPC)J HOM Early adult 3.69×10-06
increased mean corpuscular hemoglobin Eps15l1em1(IMPC)J HOM Early adult 2.19×10-08
decreased total body fat amount Eps15l1em1(IMPC)J HOM Early adult 9.53×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

4 Images

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Auditory Brain Stem Response

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

5 Images

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Human diseases caused by Eps15l1 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 Eps15l1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440

The table below shows human diseases predicted to be associated to Eps15l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia, Ectopia lentis OMIM:238700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Schizophrenia 15
Hyperactivity OMIM:613950
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Myopathy, Tubular Aggregate, 1
Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ... OMIM:160565
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... OMIM:609628
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... OMIM:261600
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia, Dysphagia ORPHA:261250
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Short Syndrome
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... ORPHA:3163
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... OMIM:620141
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... ORPHA:2969
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Nephronophthisis 11
Anisocoria, Polydipsia, Anemia OMIM:613550
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Alexander Disease
Microcoria OMIM:203450
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... OMIM:105650
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Dysphagia OMIM:300858
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Dysphagia, Aggressive behavior ORPHA:289483
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Facial Spasm
Anisocoria OMIM:134300
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Compulsive behavi... ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Congenital contracture... OMIM:613150
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... ORPHA:233
Familial Dysautonomia
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis ORPHA:1764
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Intestinal Botulism
Dysphagia, Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Dysphagia, Mydriasis ORPHA:230800
Infant Botulism
Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis ORPHA:178478
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Contracture of the proximal interphalangeal joint of the 4th finger, T lym... OMIM:618223
Miller Fisher Syndrome
Anisocoria, Dysphagia, Mydriasis ORPHA:98919
Coats Disease
Leukocoria OMIM:300216
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... ORPHA:160
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Astigmatism, Hiatus hernia OMIM:619769
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Enamel hypoplasia OMIM:618727
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... ORPHA:97214
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping OMIM:617101
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Iatrogenic Botulism
Dysphagia, Mydriasis ORPHA:254509
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Wound Botulism
Dysphagia, Mydriasis ORPHA:178475
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Mydriasis ORPHA:247815
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology, Joint contracture of the hand ORPHA:90658
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... OMIM:175780
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Revesz Syndrome
Megalocornea, Aplastic anemia, Leukocoria OMIM:268130
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Botulism
Dysphagia, Mydriasis ORPHA:1267
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Foodborne Botulism
Dysphagia, Mydriasis ORPHA:228371
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... ORPHA:330015
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Trichinellosis
Anisocoria, Conjunctivitis, Abnormal uvea morphology, Dysphagia, Conjunctival hyperemia ORPHA:863
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Cataract ORPHA:45358
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Retinoblastoma
Leukocoria, Uveitis, Leukemia, Cellulitis, Hypopyon, Heterochromia iridis ORPHA:790
Serotonin Syndrome
Restlessness, Agitation, Mydriasis ORPHA:43116
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Dysphagia OMIM:615510
Pituitary Apoplexy
Hyponatremia, Normochromic anemia, Mydriasis ORPHA:95613
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Inguinal hernia, Abnormal repetitive mannerisms OMIM:618653
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Inhalational Botulism
Mydriasis ORPHA:254504
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Scalp-Ear-Nipple Syndrome
Cataract, Developmental cataract, Anisocoria, Multiple lipomas, Iris coloboma OMIM:181270
Alternating Hemiplegia Of Childhood
Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Dysphagia, Mydriasis ORPHA:2131
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Umbilical hern... OMIM:301040
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Retinoblastoma
Leukemia, Leukocoria OMIM:180200
Arachnoid Cyst
Disinhibition, Mydriasis ORPHA:2356
Charcot-Marie-Tooth Disease Type 4C
Anisocoria ORPHA:99949
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Superficial Siderosis
Anisocoria ORPHA:247245
Witteveen-Kolk Syndrome
Inguinal hernia, Cataract, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, C... OMIM:613406
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Ectopia pupillae, Abnormal repetitive mannerisms, Iris coloboma OMIM:194190
Cocaine Intoxication
Agitation, Elevated circulating creatine kinase concentration, Mydriasis ORPHA:90068
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Flexion contracture, Bruxism, Dyspha... ORPHA:261552
Scorpion Envenomation
Restlessness, Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating c... ORPHA:466677
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Vascular Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Abnormal pupil morphology, Cigarette-paper scars, Cystocele, Hypoka... ORPHA:286
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma OMIM:235730
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia, Neutropenia ORPHA:93357
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Plague
Splenomegaly, Conjunctival hyperemia, Anorexia, Mydriasis ORPHA:707
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440

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 Eps15l1

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 Eps15l1.

No publications found that use IMPC mice or data for Eps15l1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Eps15l1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Eps15l1em1(IMPC)J Exon Deletion Mice
Eps15l1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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