Gene Summary

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

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
hyperactivity Eps15l1em1(IMPC)J HOM   Early adult 2.78×10-26
abnormal vocalization Eps15l1em1(IMPC)J HOM Early adult 2.66×10-10
irregularly shaped pupil Eps15l1em1(IMPC)J HOM Early adult 4.24×10-05

Download data as:  TSV  XLS

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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

2 Images

Auditory Brain Stem Response

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

5 Images

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
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Facial Spasm
Anisocoria OMIM:134300
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Anisocoria
Anisocoria OMIM:106240
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Mydriasis ORPHA:247815
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity OMIM:238700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Uveitis, Iris c... OMIM:221900
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Coats Disease
Leukocoria OMIM:300216
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Phenylketonuria
Cataract, Blue irides, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Hec Syndrome
Developmental cataract, Abnormal pupil morphology ORPHA:2119
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma ORPHA:39044
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopigmentation, Ectopia... OMIM:106210
Triopia
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon OMIM:602482
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Iris hypopigmentation, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Anisocoria, Difficulty walking, Gait disturbance, Steppage gait, Abnormal pupi... ORPHA:90658
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Blue irides, Hyperactivity OMIM:615516
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Gait disturbance, Corneal opacity, Ataxia, Abnormal pupil ... ORPHA:1764
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Duane Retraction Syndrome
Aniridia, Central heterochromia, Chorioretinal coloboma, Iris coloboma, Blepharospasm, Microcorne... ORPHA:233
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Axenfeld-Rieger Syndrome, Type 1
Aniridia, Polycoria, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Megalocornea,... OMIM:180500
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Alacrima, Achalasia, And Mental Retardation Syndrome
Gait disturbance, Anisocoria OMIM:615510
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Posterior lenticonus, Hypoplasia of the iris OMIM:609049
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Hyperactivity ORPHA:397973
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Ataxia OMIM:231550
Revesz Syndrome
Leukocoria, Megalocornea, Ataxia OMIM:268130
Gand Syndrome
Hyperactivity OMIM:615074
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Persistent pupillary membrane, Microcornea OMIM:257850
Intestinal Botulism
Mydriasis ORPHA:178481
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Trichinellosis
Lethargy, Anisocoria, Abnormal uvea morphology, Conjunctivitis, Conjunctival hyperemia ORPHA:863
Superficial Siderosis
Dysdiadochokinesis, Anisocoria, Progressive gait ataxia, Limb ataxia, Ataxia, Unsteady gait, Dysm... ORPHA:247245
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Iatrogenic Botulism
Mydriasis ORPHA:254509
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Mend Syndrome
Cataract, Hyperactivity OMIM:300960
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Hyperactivi... OMIM:256800
Wound Botulism
Mydriasis ORPHA:178475
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Inhalational Botulism
Mydriasis ORPHA:254504
Nephronophthisis 11
Anisocoria OMIM:613550
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Norrie Disease
Abnormal chorioretinal morphology, Anterior chamber synechiae, Ectopia lentis, Corneal opacity, H... ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Chorioretinal dysplasia, Corneal opacity, Cataract, Abnormal pupil morp... ORPHA:534
Botulism
Mydriasis ORPHA:1267
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Charcot-Marie-Tooth Disease Type 4C
Inability to walk, Gait ataxia, Anisocoria, Difficulty walking, Steppage gait, Broad-based gait ORPHA:99949
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Fragile X Syndrome
Hyperactivity OMIM:300624
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Foodborne Botulism
Mydriasis ORPHA:228371
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Histidinemia
Hyperactivity ORPHA:2157
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Ataxia, Hyperactivity OMIM:601853
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Hyperactivity, Astigmatism ORPHA:168491
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Angelman Syndrome
Progressive gait ataxia, Blue irides, Broad-based gait, Hyperactivity OMIM:105830
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Witteveen-Kolk Syndrome
Iris coloboma, Anisocoria, Attention deficit hyperactivity disorder, Hyperactivity OMIM:613406
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Anisocoria OMIM:618653
Retinoblastoma
Leukocoria, Hypopyon, Uveitis, Heterochromia iridis ORPHA:790
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Serotonin Syndrome
Mydriasis ORPHA:43116
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Alternating Hemiplegia Of Childhood
Dystonia, Mydriasis, Ataxia ORPHA:2131
Angelman Syndrome
Inability to walk, Keratoconus, Iris hypopigmentation, Ataxia, Hyperactivity, Astigmatism, Broad-... ORPHA:72
Retinoblastoma
Leukocoria OMIM:180200
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Pituitary Apoplexy
Mydriasis ORPHA:95613
Cutis Marmorata Telangiectatica Congenita
Leukocoria ORPHA:1556
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Axenfeld anomaly, Iris coloboma, Ectopia pupillae, Cataract, Microcornea, Iris... ORPHA:261552
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Hyperactivity, Astigmatism, Limbal dermoid OMIM:600268
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Mowat-Wilson Syndrome
Chorioretinal coloboma, Iris coloboma, Ectopia pupillae, Cataract, Microcornea OMIM:235730
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Cocaine Intoxication
Mydriasis ORPHA:90068
Scorpion Envenomation
Mydriasis, Ataxia ORPHA:466677
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Sponastrime Dysplasia
Microcoria, Congenital aphakia, Cataract ORPHA:93357
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Plague
Unsteady gait, Mydriasis, Conjunctival hyperemia ORPHA:707
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.

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MGI Allele Allele Type Produced
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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