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Gene: Eps8l3 MGI:2139743

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Gene Summary

Name:
EPS8-like 3
Synonyms:
N/A

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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
abnormal maxilla morphology Eps8l3tm1b(KOMP)Mbp HOM Early adult 1.08×10-05
abnormal cranium morphology Eps8l3tm1b(KOMP)Mbp HOM Early adult 4.29×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel A FCS file(s)

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Gross Pathology and Tissue Collection

Images

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Immunophenotyping

Panel B FCS file(s)

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Eye Morphology

Images Ophthalmoscopy

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Human diseases caused by Eps8l3 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 Eps8l3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotrichosis 5
OMIM:612841
Marie Unna Hereditary Hypotrichosis
ORPHA:444

The table below shows human diseases predicted to be associated to Eps8l3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla OMIM:246560
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:241310
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta OMIM:601216
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla OMIM:156510
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1248
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia OMIM:620157
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:261295
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Malan Syndrome
Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, Retrognathia OMIM:614753
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia OMIM:616367
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla ORPHA:85279
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:776
Keipert Syndrome
Hypoplasia of the maxilla ORPHA:2662
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses OMIM:136760
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:108721
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia ORPHA:79113
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:915
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Hypoplas... OMIM:257850
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... ORPHA:439822
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla OMIM:218000
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Retrognathia ORPHA:2409
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Pro... OMIM:170390
Cohen Syndrome
Hypoplasia of the maxilla, Macrodontia of permanent maxillary central incisor, Micrognathia OMIM:216550
Crouzon Syndrome
Hypoplasia of the maxilla ORPHA:207
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:245
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Micrognathia OMIM:616462
Acrodysostosis
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:950
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Abnormal dental ename... ORPHA:1798
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla OMIM:614261
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia OMIM:608149
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Hypoplasia of the zygomatic... ORPHA:560
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla OMIM:601499
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Carpenter Syndrome 1
Hypoplasia of the maxilla, Persistence of primary teeth, Malar flattening, Micrognathia OMIM:201000
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Talon cusp, Micrognathia ORPHA:363417
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia OMIM:300534
Recon Progeroid Syndrome
Prominence of the premaxilla, Delayed eruption of permanent teeth OMIM:620370
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:101600
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla ORPHA:782
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:105830
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:123500
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:178303
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruptio... ORPHA:192
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla ORPHA:293939
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:231070
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Hypoplasia of teeth ORPHA:50814
Andersen-Tawil Syndrome
Hypoplasia of the maxilla, Persistence of primary teeth, Abnormality of dental color, Micrognathia ORPHA:37553
Mohr Syndrome
Hypoplasia of the maxilla, Malar flattening, Agenesis of central incisor, Micrognathia OMIM:252100
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Malar flattening, Dental malocclusion, Micrognathia OMIM:601390
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Enamel hypoplasia, Taurodontia, Carious teeth OMIM:129400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Micrognathia OMIM:309520
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia OMIM:615109
Aarskog-Scott Syndrome
Hypoplasia of the maxilla OMIM:305400
Martsolf Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:212720
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth OMIM:101800
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Malar flattening, Dental malocclusion, Micrognathia OMIM:615546
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:613805
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth ORPHA:87
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Retrognathia, Delayed eruption of teeth, Micrognathia OMIM:601812
Cohen Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:193
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses ORPHA:391474
Cowden Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:158350
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:251061
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine ORPHA:79345
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:314679
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Micrognathia OMIM:182212
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Micrognathia OMIM:259600
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the zyg... ORPHA:861
Marshall-Smith Syndrome
Microretrognathia, Short mandibular rami, Prominence of the premaxilla, Retrognathia OMIM:602535
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:211380
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Micrognathia OMIM:613803
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Dental... OMIM:209885
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia ORPHA:2462
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Ma... OMIM:166250
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Agenesis of incisor, Dental malocclusion... OMIM:610829
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla ORPHA:794
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Craniofacial hyperostosis ORPHA:2588
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1101
Distal Deletion 19P
Hypoplasia of the maxilla ORPHA:96129
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Retrognathia OMIM:608156
Ear-Patella-Short Stature Syndrome
Hypoplasia of the maxilla, Retrognathia, Mandibular aplasia, Micrognathia ORPHA:2554
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypoplasia of the maxilla, Recurrent sinusitis, Micrognathia OMIM:213980
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:600920
3Mc Syndrome 2
Prominence of the premaxilla OMIM:265050
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla OMIM:609460
Dyskeratosis Congenita
Hypoplasia of the maxilla, Taurodontia, Carious teeth ORPHA:1775
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia OMIM:215140
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:224690
Branchioskeletogenital Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Carious teeth, Abnormal dentin morphology ORPHA:1299
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Micrognathia ORPHA:1106
Aicardi Syndrome
Prominence of the premaxilla ORPHA:50
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:263650
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of the frontal bone ORPHA:306542
Rubinstein-Taybi Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Talon cusp, Dental malocclusion, Enamel hypoplasia, Retr... OMIM:180849
Aicardi Syndrome
Prominence of the premaxilla OMIM:304050
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla OMIM:608328
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:139210
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Micrognathia OMIM:614437
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:920
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Advanced eruption of ... ORPHA:828
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Hypoplasia of the maxilla, Retrognathia, Micrognathia ORPHA:96334
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Supernumerary tooth,... OMIM:614188
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Malar flattening, Carious teeth OMIM:129900
Zttk Syndrome
Hypoplasia of the maxilla OMIM:617140
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin OMIM:101400
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth ORPHA:2044
Peters-Plus Syndrome
Hypoplasia of the maxilla, Conical incisor, Agenesis of maxillary lateral incisor, Micrognathia OMIM:261540
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla ORPHA:500150
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Eruption failure, Hypoplasia of the tooth germ, Carious teeth OMIM:182250
Primrose Syndrome
Hypoplasia of the maxilla, Malar flattening, Increased size of the mandible OMIM:259050
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Malar flattening, Maxillozygomatic hypoplasia, Micrognathia OMIM:164210
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Holoprosencephaly 2
Malar flattening, Aplasia of the premaxilla OMIM:157170
Hypotrichosis 5
OMIM:612841
Marie Unna Hereditary Hypotrichosis
ORPHA:444

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 Eps8l3

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 Eps8l3.

No publications found that use IMPC mice or data for Eps8l3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Eps8l3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Eps8l3tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Eps8l3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Eps8l3tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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