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

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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.

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Immunophenotyping

Panel B FCS file(s)

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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Immunophenotyping

Panel A 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
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla OMIM:601216
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
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
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental malocclusion, Agenesis o... ORPHA:199306
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1248
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Malar flattening 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
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, Mandibular prognathia OMIM:614753
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Trismus OMIM:616367
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Malar flattening ORPHA:2412
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla ORPHA:85279
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening ORPHA:93262
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
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia OMIM:301108
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Hypoplastic frontal sinuses OMIM:136760
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:108721
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla ORPHA:2975
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening ORPHA:79113
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia 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
Hypoplasia of the primary teeth, Delayed eruption of teeth, Hypoplasia of the maxilla, Hypoplasia... OMIM:257850
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia... ORPHA:439822
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla OMIM:218000
Pycnodysostosis
Obtuse angle of mandible, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth,... ORPHA:763
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth ORPHA:2409
Crouzon Syndrome
Hypoplasia of the maxilla ORPHA:207
Cohen Syndrome
Hypoplasia of the maxilla, Micrognathia, Macrodontia of permanent maxillary central incisor OMIM:216550
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prominent frontal sinuses, Persistence of primary teeth, Hypoplasia of the... OMIM:170390
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:245
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Carious teeth, Hypoplasia of the zygomatic bone, Hypoplasia of... ORPHA:1798
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla OMIM:614261
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia OMIM:608149
Marshall Syndrome
Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Hypoplasi... ORPHA:560
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Mandibular prognathia OMIM:601499
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
Carpenter Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Persistence of primary teeth OMIM:201000
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Mandibular prognathia, Micrognathia OMIM:300534
Acrodysostosis
Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth ORPHA:950
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla ORPHA:782
Temtamy Preaxial Brachydactyly Syndrome
Hypoplasia of the maxilla, Micrognathia, Talon cusp ORPHA:363417
Recon Progeroid Syndrome
Delayed eruption of permanent teeth, Prominence of the premaxilla OMIM:620370
Crouzon Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:123500
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:105830
Pfeiffer Syndrome
Hypoplasia of the maxilla, Mandibular prognathia OMIM:101600
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla ORPHA:293939
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruptio... ORPHA:192
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:178303
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Delayed eruption of teeth ORPHA:50814
Andersen-Tawil Syndrome
Abnormality of dental color, Hypoplasia of the maxilla, Micrognathia, Persistence of primary teeth ORPHA:37553
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Agenesis of central incisor OMIM:252100
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Dental malocclusion OMIM:601390
Geroderma Osteodysplasticum
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening OMIM:231070
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:615108
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Micrognathia OMIM:309520
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Carious teeth, Enamel hypoplasia, Taurodontia OMIM:129400
Martsolf Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:212720
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia OMIM:615109
Aarskog-Scott Syndrome
Hypoplasia of the maxilla OMIM:305400
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Delayed eruption of teeth OMIM:101800
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Dental malocclusion OMIM:615546
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia OMIM:613805
Apert Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth ORPHA:87
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla ORPHA:2095
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Delayed eruption of teeth OMIM:601812
Cohen Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:193
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla ORPHA:251061
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses ORPHA:391474
Cowden Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:158350
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, Micrognathia, Dental malocclusion OMIM:182212
Elsahy-Waters Syndrome
Supernumerary tooth, Agenesis of incisor, Delayed eruption of teeth, Mandibular prognathia, Hypop... OMIM:211380
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth OMIM:259600
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Prominence of the premaxilla, Microretrognathia OMIM:602535
Treacher-Collins Syndrome
Retrognathia, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Micrognathia, Malar f... ORPHA:861
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia ORPHA:2462
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Hypoplasia of the maxilla ORPHA:238468
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Micrognathia, Microretrognathia OMIM:613803
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Dental... OMIM:209885
Osteoglophonic Dysplasia
Delayed eruption of teeth, Eruption failure, Mandibular prognathia, Hypoplasia of the maxilla, Ma... OMIM:166250
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1101
Distal Deletion 19P
Hypoplasia of the maxilla ORPHA:96129
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla ORPHA:794
Myhre Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Craniofacial hyperostosis ORPHA:2588
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Recurrent sinusitis OMIM:213980
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Retrognathia OMIM:608156
Ear-Patella-Short Stature Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Mandibular aplasia ORPHA:2554
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:600920
Dyskeratosis Congenita
Hypoplasia of the maxilla, Carious teeth, Taurodontia ORPHA:1775
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla OMIM:609460
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia OMIM:215140
3Mc Syndrome 2
Prominence of the premaxilla OMIM:265050
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla OMIM:277600
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Micrognathia OMIM:224690
Branchioskeletogenital Syndrome
Hypoplasia of the maxilla, Carious teeth, Mandibular prognathia, Abnormal dentin morphology ORPHA:1299
Microphthalmia With Limb Anomalies
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the premaxilla 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, Hypoplasia of the frontal bone, Aplasia/Hypoplasia of the frontal sinuses ORPHA:306542
Myhre Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening OMIM:139210
Rubinstein-Taybi Syndrome 1
Retrognathia, Talon cusp, Hypoplasia of the maxilla, Enamel hypoplasia, Micrognathia, Dental malo... OMIM:180849
Aicardi Syndrome
Prominence of the premaxilla OMIM:304050
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla OMIM:608328
Holoprosencephaly 9
Agenesis of incisor, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Malar flattening, D... OMIM:610829
Stickler Syndrome
Advanced eruption of teeth, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Microgn... ORPHA:828
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Ib
Retrognathia, Micrognathia, Prominence of the premaxilla OMIM:614437
Cutis Laxa, Autosomal Recessive, Type Iic
Hypoplasia of the maxilla, Mandibular prognathia, Malar flattening OMIM:617402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplasia of the maxilla, Retrognathia, Mandibular prognathia, Micrognathia ORPHA:96334
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Malar flattening OMIM:604292
Craniosynostosis And Dental Anomalies
Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla,... OMIM:614188
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Malar flattening OMIM:129900
Zttk Syndrome
Hypoplasia of the maxilla OMIM:617140
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Malar flattening OMIM:101400
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Carious teeth, Persistence of primary teeth ORPHA:2044
Acrofacial Dysostosis, Cincinnati Type
Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch, Micrognathia OMIM:616462
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla ORPHA:500150
Peters-Plus Syndrome
Conical incisor, Micrognathia, Agenesis of maxillary lateral incisor, Hypoplasia of the maxilla OMIM:261540
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ OMIM:182250
Primrose Syndrome
Hypoplasia of the maxilla, Increased size of the mandible, Malar flattening OMIM:259050
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Maxillozygomatic hypoplasia, Micrognathia, Malar flattening 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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